Metabolites

Acylcarnitine: Isomer separation (LGMD)

Description / Indication

Separation of isomeric acylcarnitines e.g. C5-OH-acylcarnitine (3-OH-C5 vs 2-methyl-3-OH-C4, methylmalonyl- vs succinyl-carnitine etc.).

Method:

LC tandem MS

TAT:

3-4 weeks

Price:

€ 140

Materials:

Plasma:

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

Urine:

  • Amount: 500 µl, random specimen or 24-hour urine.
  • Conditions: Dry ice.
Acylcarnitines (LGMD)

Description / Indication

Fatty acid oxidation defects, organic acidemias.

Method:

tandem MS

TAT:

3-4 weeks

Price:

€ 140

Materials:

Plasma:

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

Urine:

  • Amount: 500 µl, random specimen or 24-hour urine.
  • Conditions: Dry ice.
alpha-Aminoadipic semialdehyde (alpha-ASA) (LGMD)

Description / Indication

Vitamin B6-responsive seizures due to an alfa-AASA dehydrogenase (antiquitin) deficiency. This metabolite is included in the metabolic epilepsy screening.

Method:

UPLC tandem MS

TAT:

3-4 weeks

Price:

€ 140

Materials:

Urine:

  • Amount: 200 µl, random specimen or 24-hour urine.
  • Conditions: Dry ice.
Amino acids (LGMD)

Description / Indication

Aminoacidopathies, nutrional studies.

Method:

Amino acid analyser

TAT:

3-4 weeks

Price:

€ 140

Materials:

CSF:

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: CSF sample protocol.

Plasma:

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

Urine:

  • Amount: 1 ml, preferably 24-hour urine.
  • Conditions: Dry ice.

    Bile acids (LGMD)

    Description / Indication

    Bile acid synthesis defects, peroxisomal disorders and cholestatic jaundice.

    Method:

    LC tandem MS

    TAT:

    3-4 weeks

    Price:

    € 140

    Materials:

    Bile:

    • Amount: 50 µl.
    • Conditions: Dry ice.

    Plasma:

    • Amount: 250 µl.
    • Conditions: Dry ice.
    • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

    Urine:

    • Amount: 500 µl, random specimen or 24-hour urine.
    • Conditions: Dry ice.

      Cardiolipins (LGMD)

      Description / Indication

      Barth syndrome. Screening test in dried bloodspot, confirmation in lymphocytes, fibroblasts or tissue.

      Method:

      LC tandem MS

      TAT:

      3-4 weeks (excl. culture time for fibroblasts).

      Price:

      € 140
      Costs in case of fibroblast culturing are 200 euro's.

      Materials:

      Blood:

      • Amount: 5 ml
      • Conditions: room temperature
      • Specifics: Blood samples need to arrive in our laboratory within 48 hours after drawing.

      Blood spots:

      • Amount: 2 dried bloodspot, 40 µl of blood on a guthrie card.
      • Conditions: Room temperature.
      • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

      Cultured skin fibroblasts:

      • Conditions: Room temperature
      • Specifics: Grow the fibroblasts to near confluence in a T-25 flask, fill the flask completely with sterile buffered (25mM Hepes) culture media supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (25mM Hepes) culture medium without serum and antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

      Lymphocytes:

      • Conditions: Dry ice
      • Specifics: Isolated lymphocytes from EDTA/Heparin blood sample of patient and 1 control should be sent in clearly labeled, tightly capped tubes (incl. patient info), stored at -80 °C and subsequently shipped on dry ice to lab GMD.

      Tissue:

      • Conditions: Dry ice
      • Specifics: First contact the laboratory specialist
        Catecholamines and metanephrines (LGMD)

        Description / Indication

        Tumor diagnostics (neuroblastoma, pheochromocytoma).

        Method:

        UPLC tandem MS

        TAT:

        HPLC

        Price:

        € 140

        Materials:

        Urine:

        • Amount: 10 ml, 24-hour collection.
        • Conditions: Dry ice.
        • Specifics: Tumor diagnostics sampling protocol.
          Ceramidetrihexoside/Gb3 (LGMD)

          Description / Indication

          Globotriaosylceramide / Ceramidetrihexoside/ Gb3 is the main storage product in Fabry disease. Its determination in plasma and urine is useful in the diagnosis of male Fabry patients. Plasma Gb3 is not useful in female carriers and determination in urine has limited value.

          Method:

          UPLC tandem MS

          TAT:

          On request

          Price:

          On request

          Materials:

          Plasma:

          • Amount: 500 µl.
          • Conditions: Dry ice.
          • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

          Urine:

          • Amount: 2ml, random specimen or 24-hour urine.
          • Conditions: Dry ice.

            Cholestanol (LGMD)

            Description / Indication

            Cerebrotendinous xanthomatosis.

            Method:

            GC/GCMS

            TAT:

            3-4 weeks

            Price:

            € 140

            Materials:

            Plasma:

            • Amount: 500 µl.
            • Conditions: Dry ice.
            • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
              Creatine and guanidinoacetic acid (LGMD)

              Description / Indication

              Creatine synthesis and transport defects.

              Method:

              LC tandem MS

              TAT:

              3-4 weeks

              Price:

              € 140

              Materials:

              Plasma:

              • Amount: 250 µl.
              • Conditions: Dry ice.
              • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

              Urine:

              • Amount: 1 ml, random specimen or 24-hour collection
              • Conditions: Dry ice
                C26:0-carnitine (LGMD)

                Description / Indication

                X-ALD, peroxisomal disorders.

                Method:

                LC tandem MS

                TAT:

                3-4 weeks

                Price:

                € 140

                Materials:

                Blood spots:

                • Amount: 2 dried bloodspot, 40 µl of blood on a guthrie card.
                • Conditions: Room temperature.
                • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

                Plasma:

                • Amount: 500 µl.
                • Conditions: Dry ice.
                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
                    C26:0-lyso-PC (LGMD)

                    Description / Indication

                    Accumulation of very long-chain fatty acids in lipids. X-ALD, peroxisomal disorders.

                    Method:

                    LC tandem MS

                    TAT:

                    3-4 weeks

                    Price:

                    € 140

                    Materials:

                    Blood spots:

                    • Amount: 2 dried bloodspot, 40 µl of blood on a guthrie card.
                    • Conditions: Room temperature.
                    • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

                    Cultured skin fibroblasts:

                    • Conditions: Room temperature.
                    • Specifics: Grow the fibroblasts to near confluence in a T-25 flask, fill the flask completely with sterile buffered (25mM Hepes) culture media supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
                      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (25mM Hepes) culture medium without serum and antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
                        D- and L-2-hydroxyglutaric acid (LGMD)

                        Description / Indication

                        Differentiation between L- and D-2-hydroxyglutaric acidurias.

                        Method:

                        GC/GCMS

                        TAT:

                        3-4 weeks

                        Price:

                        € 140

                        Materials:

                        Urine:

                        • Amount: 5 ml, random specimen or 24-hour collection.
                        • Conditions: Dry ice.
                              D-lactate (LGMD)

                              Description / Indication

                              Mitochondrial diseases, metabolic acidosis.

                              Method:

                              LCMS

                              TAT:

                              3-4 weeks

                              Price:

                              € 55

                              Materials:

                              Urine:

                              • Amount: 500 µl, random specimen or 24-hour urine.
                              • Conditions: Dry ice.

                              Plasma:

                              • Amount: 500 µl.
                              • Conditions: Dry ice.
                              • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                              CSF:

                              • Amount: 5 ml, random specimen or 24-hour collection.
                              • Conditions: Dry ice.
                                    Essential fatty acids (PUFAs) (LGMD)

                                    Description / Indication

                                    Nutritional studies.

                                    Method:

                                    GC/GCMS

                                    TAT:

                                    3-4 weeks.

                                    Price:

                                    € 140 (each test)

                                    EDTA whole blood is the preferred material. Our standard protocol is to analyze both plasma and erythrocytes. Erythrocytes give an impression of the (essential) fatty acid status for a longer period of time whereas plasma levels are representative of the current situation/diet (similar to the relation between HbA1c and glucose). If possible, please do not collect blood postprandially but collect at least 2 hours after a meal or after an overnight fast. For the fatty acids included in the analysis see table below.

                                    Materials:

                                    Erythrocytes (isolated from EDTA whole blood):

                                    • Amount: 1 ml of whole blood.
                                    • Conditions: room temperature.
                                    • Specifics: Sample must arrive at our lab within 24 hours.

                                    Plasma:

                                    • Amount: 500 µl.
                                    • Conditions: Dry ice.
                                    • Specifics: EDTA plasma (preferred material), heparin plasma also suitable. We preferably measure in both erythrocytes and plasma to evaluate long-term essential fatty acid status (erythrocytes) and current dietary effects (plasma). Plasma analysis alone is possible but less informative with regard to the (essential) fatty acid status.
                                    Fatty acids included in the analysis:
                                    Fatty acid Abreviation Type
                                    C14:0 Myristic acid -
                                    C16:0 Palmitic acid -
                                    C18:0 Stearic acid -
                                    C20:0 Arachidic acid -
                                    C22:0 Behenic acid -
                                    C18:3ω3 Linolenic acid ALA ω-3 / n-3
                                    C18:4ω3 Octadecatetraenoic acid ω-3 / n-3
                                    C20:5ω3 Eicosapentaenoic acid EPA ω-3 / n-3
                                    C22:5ω3 Docosapentaenoic acid DPA ω-3 / n-3
                                    C22:6ω3 Docosahexaenoic acid DHA ω-3 / n-3
                                    C14:1ω5 Myristoleic acid ω-5 / n-5
                                    C18:2ω6 Linoleic acid LA ω-6 / n-6
                                    C18:3ω6 Gamma-Linolenic acid GLA ω-6 / n-6
                                    C20:2ω6 Eicosadienoic acid ω-6 / n-6
                                    C20:3ω6 Homogamma-Linolenic acid ω-6 / n-6
                                    C20:4ω6 Arachidonic acid AA ω-6 / n-6
                                    C22:2ω6 Docosadienoic acid ω-6 / n-6
                                    C22:4ω6 Docosatetraenoic acid ω-6 / n-6
                                    C22:5ω6 Docosapentaenoic acid ω-6 / n-6
                                    C16:1ω7 Palmitoleic acid ω-7 / n-7
                                    C18:1ω7 Vaccenic acid ω-7 / n-7
                                    C20:1ω7 13-Eicosenoic acid ω-7 / n-7
                                    C16:1ω9 Hypogeic acid ω-9 / n-9
                                    C18:1ω9 Oleic acid ω-9 / n-9
                                    C20:1ω9 Gondoic acid ω-9 / n-9
                                    C20:3ω9 Eicosatrienoic acid ω-9 / n-9
                                    C22:1ω9 Erucic acid ω-9 / n-9

                                      Flavins (LGMD)

                                      Description / Indication

                                      Riboflavin, FMN and FAD; Flavin synthesis/transport defects.

                                      Method:

                                      HPLC

                                      TAT:

                                      3-4 weeks

                                      Price:

                                      € 140

                                      Materials:

                                      Plasma:

                                      • Amount: 500 µl, EDTA plasma only.
                                      • Conditions: Dry ice.
                                      • Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).
                                              Galactose-1-phosphate (LGMD)

                                              Description / Indication

                                              Measurement of the levels of galactose-1-phosphate is performed as therapy control for patients diagnosed with galactosemia type 1.

                                              Method:

                                              GC/GCMS

                                              Test frequency:

                                              3-4 weeks

                                              Price:

                                              € 140

                                              Materials:

                                              Erythrocytes (from whole blood):

                                              • Amount: 2 ml of whole blood.
                                              • Conditions: Room temperature.
                                              • Specifics: Sample must arrive at our lab within 48 hours.
                                                      Gamma-aminobutyric acid (GABA) (LGMD)

                                                      Description / Indication

                                                      GABA transaminase deficiency and succinate semialdehyde dehydrogenase (SSADH) deficiency. This metabolite is included in the metabolic epilepsy screening.

                                                      Method:

                                                      LC-MS

                                                      Test frequency:

                                                      3-4 weeks

                                                      Price:

                                                      € 140

                                                      Materials:

                                                      CSF:

                                                      • Amount: 500 µl.
                                                      • Conditions: Dry ice.
                                                      • Specifics: CSF sample protocol.
                                                              Glycosaminoglycans (GAGs) Nederlands (GABA) (LGMD)

                                                              Description / Indication

                                                              Mucopolysaccharidoses.

                                                              Method:

                                                              LC tandem MS

                                                              TAT:

                                                              3-4 weeks

                                                              Price:

                                                              € 140

                                                              Materials:

                                                              Urine:

                                                              • Amount: 1 ml, random specimen or 24-hour collection.
                                                              • Conditions: Dry ice.
                                                                      Homocarnosine (GABA-histidine) (LGMD)

                                                                      Description / Indication

                                                                      GABA transaminase deficiency and succinate semialdehyde dehydrogenase (SSADH) deficiency. This metabolite is included in the metabolic epilepsy screening.

                                                                      Method:

                                                                      LC-MS

                                                                      TAT:

                                                                      3-4 weeks

                                                                      Price:

                                                                      € 140

                                                                      Materials:

                                                                      CSF:

                                                                      • Amount: 200 µl.
                                                                      • Conditions: Dry ice.
                                                                      • Specifics: CSF sample protocol.
                                                                              Homocysteine (LGMD)

                                                                              Description / Indication

                                                                              Homocystinurias.

                                                                              Method:

                                                                              LC tandem MS

                                                                              TAT:

                                                                              3-4 weeks

                                                                              Price:

                                                                              € 140

                                                                              Materials:

                                                                              Plasma:

                                                                              • Amount: 500 µl.
                                                                              • Conditions: Dry ice.
                                                                              • Specifics: Collect at least 2 ml of EDTA blood in an ice-cooled (0°C) tube and centrifuge for 10 minutes at 3000rpm (1700 x g) at 4°C within 1.5 hrs (also keep on ice before centrifugation).
                                                                                      Ketones (LGMD)

                                                                                      Description / Indication

                                                                                      Ketosis (acetoacetate, 3-hydroxybutyrate).

                                                                                      Method:

                                                                                      LC tandem MS

                                                                                      TAT:

                                                                                      3-4 weeks

                                                                                      Price:

                                                                                      € 55

                                                                                      Materials:

                                                                                      Deproteinized fluoride or EDTA blood:

                                                                                      • Amount: 500 µl.
                                                                                      • Conditions: Dry ice.
                                                                                      • Specifics: Sampling protocol for lactate, pyruvate and ketones.

                                                                                      Deproteinized CSF:

                                                                                      • Amount: 500 µl.
                                                                                      • Conditions: Dry ice.
                                                                                      • Specifics: Sampling protocol for lactate, pyruvate and ketones.
                                                                                              Methylmalonic acid (LGMD)

                                                                                              Description / Indication

                                                                                              Marker of vitamin B12/cobalamin deficiency, cobalamin synthesis/transport defects.

                                                                                              Method:

                                                                                              LC tandem MS

                                                                                              TAT:

                                                                                              3-4 weeks

                                                                                              Price:

                                                                                              € 140

                                                                                              Materials:

                                                                                              Plasma:

                                                                                              • Amount: 500 µl.
                                                                                              • Conditions: Dry ice.
                                                                                              • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                        Lysoceramidetrihexoside/LysoGb3 (LGMD)

                                                                                                        Description / Indication

                                                                                                        Globotriaosylsphingosine / Lysoglobotriaosylceramide / lysoGb3 is a storage product in Fabry disease. Its determination in plasma is very useful in the diagnosis of male and female patients (carriers) with Fabry disease and may also help to distinguish non classical forms of Fabry disease from classical Fabry disease and normal.

                                                                                                        Method:

                                                                                                        LC tandem MS

                                                                                                        TAT:

                                                                                                        3-4 weeks

                                                                                                        Price:

                                                                                                        € 225

                                                                                                        Materials:

                                                                                                        Plasma:

                                                                                                        • Amount: 500 µl.
                                                                                                        • Conditions: Dry ice.
                                                                                                        • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                  Lactate/Pyruvate (LGMD)

                                                                                                                  Description / Indication

                                                                                                                  Mitochondrial diseases, metabolic acidosis.

                                                                                                                  Method:

                                                                                                                  LC tandem MS

                                                                                                                  TAT:

                                                                                                                  3-4 weeks

                                                                                                                  Price:

                                                                                                                  € 55

                                                                                                                  Materials:

                                                                                                                  Deproteinized fluoride or EDTA blood:

                                                                                                                  • Amount: 500 µl.
                                                                                                                  • Conditions: Dry ice.
                                                                                                                  • Specifics: Sampling protocol for lactate,pyruvate and ketones.

                                                                                                                  Deproteinized CSF:

                                                                                                                  • Amount: 500 µl.
                                                                                                                  • Conditions: Dry ice.
                                                                                                                  • Specifics: Sampling protocol for lactate,pyruvate and ketones.

                                                                                                                  Urine:

                                                                                                                  • Amount: 500 µl, random specimen or 24-hour urine.
                                                                                                                  • Conditions: Dry ice.

                                                                                                                            Methyltetrahydrofolate (LGMD)

                                                                                                                            Description / Indication

                                                                                                                            Marker of folate deficiency / folate transport defects.

                                                                                                                            Method:

                                                                                                                            HPLC

                                                                                                                            TAT:

                                                                                                                            3-4 weeks

                                                                                                                            Price:

                                                                                                                            € 140

                                                                                                                            Materials:

                                                                                                                            CSF:

                                                                                                                            • Amount: 500 µl.
                                                                                                                            • Conditions: Dry ice.
                                                                                                                            • Specifics: CSF sample protocol.

                                                                                                                                        Mevalonic acid (LGMD)

                                                                                                                                        Description / Indication

                                                                                                                                        Hyper IgD syndrome / mevalonate kinase deficiency.

                                                                                                                                        Method:

                                                                                                                                        GC/GCMS

                                                                                                                                        TAT:

                                                                                                                                        3-4 weeks

                                                                                                                                        Price:

                                                                                                                                        € 140

                                                                                                                                        Materials:

                                                                                                                                        Urine:

                                                                                                                                        • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                        • Conditions: Dry ice.

                                                                                                                                                    Oligosaccharides (LGMD)

                                                                                                                                                    Description / Indication

                                                                                                                                                    Oligosaccharidoses.

                                                                                                                                                    Method:

                                                                                                                                                    TLC

                                                                                                                                                    TAT:

                                                                                                                                                    3-4 weeks

                                                                                                                                                    Price:

                                                                                                                                                    € 140

                                                                                                                                                    Materials:

                                                                                                                                                    Urine:

                                                                                                                                                    • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                    • Conditions: Dry ice.

                                                                                                                                                                Organic acids (LGMD)

                                                                                                                                                                Description / Indication

                                                                                                                                                                Organic acidurias.

                                                                                                                                                                Method:

                                                                                                                                                                GC/GCMS

                                                                                                                                                                TAT:

                                                                                                                                                                3-4 weeks

                                                                                                                                                                Price:

                                                                                                                                                                € 140

                                                                                                                                                                Materials:

                                                                                                                                                                Plasma:

                                                                                                                                                                • Amount: 1 ml.
                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                Urine:

                                                                                                                                                                • Amount: 5 ml, random specimen or 24-hour collection.
                                                                                                                                                                • Conditions: Dry ice.

                                                                                                                                                                Urine spot:

                                                                                                                                                                • Amount: 12 mm x 40 mm filterpaper containing urine, dry.
                                                                                                                                                                • Conditions: Room temperature.
                                                                                                                                                                Oxalic acid (LGMD)

                                                                                                                                                                Description / Indication

                                                                                                                                                                Hyperoxalurias, renal stones.

                                                                                                                                                                Method:

                                                                                                                                                                Ion chromatography

                                                                                                                                                                TAT:

                                                                                                                                                                3-4 weeks

                                                                                                                                                                Price:

                                                                                                                                                                € 140

                                                                                                                                                                Materials:

                                                                                                                                                                Urine:

                                                                                                                                                                • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                                • Conditions: Dry ice.

                                                                                                                                                                  Oxalic and glycolic acid (LGMD)

                                                                                                                                                                  Description / Indication

                                                                                                                                                                  Hyperoxalurias, renal stones.

                                                                                                                                                                  Method:

                                                                                                                                                                  GC/GCMS

                                                                                                                                                                  TAT:

                                                                                                                                                                  3-4 weeks

                                                                                                                                                                  Price:

                                                                                                                                                                  € 140

                                                                                                                                                                  Materials:

                                                                                                                                                                  Deproteinized heparin plasma:

                                                                                                                                                                  • Amount: See protocol.
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  • Specifics: Plasma oxalate protocol.
                                                                                                                                                                  Oxysterols (LGMD)

                                                                                                                                                                  Description / Indication

                                                                                                                                                                  Niemann-Pick disease, type C

                                                                                                                                                                  Method:

                                                                                                                                                                  UPLC tandem MS

                                                                                                                                                                  TAT:

                                                                                                                                                                  3-4 weeks

                                                                                                                                                                  Price:

                                                                                                                                                                  € 140

                                                                                                                                                                  Materials:

                                                                                                                                                                  Plasma:

                                                                                                                                                                  • Amount: 500 µl.
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  • Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).
                                                                                                                                                                  Palmitic acid/Stearic acid ratio (LGMD)

                                                                                                                                                                  Description / Indication

                                                                                                                                                                  Assessment of fetal lung maturation.

                                                                                                                                                                  Method:

                                                                                                                                                                  GC/GCMS

                                                                                                                                                                  TAT:

                                                                                                                                                                  On request

                                                                                                                                                                  Price:

                                                                                                                                                                  € 140

                                                                                                                                                                  Materials:

                                                                                                                                                                  Amniotic fluid:

                                                                                                                                                                  • Amount: 1 ml.
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  Phenolic acids (LGMD)

                                                                                                                                                                  Description / Indication

                                                                                                                                                                  Neurotransmitters defects / tumor diagnostics (neuroblastoma, pheochromocytoma).

                                                                                                                                                                  Method:

                                                                                                                                                                  HPLC

                                                                                                                                                                  TAT:

                                                                                                                                                                  3-4 weeks / On request

                                                                                                                                                                  Price:

                                                                                                                                                                  € 140

                                                                                                                                                                  Materials:

                                                                                                                                                                  CSF:

                                                                                                                                                                  • Amount: 500 µl.
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  • Specifics: CSF sample protocol.

                                                                                                                                                                  Plasma:

                                                                                                                                                                  • Amount: 500 µl.
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  • Specifics: This test can only be performed in EDTA plasma (not in heparin plasma)

                                                                                                                                                                  CSF:

                                                                                                                                                                  • Amount: 500 µl, random specimen or 24-hour urine
                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                  • Specifics: Tumor diagnostics sampling protocol.
                                                                                                                                                                  Phenylalanine and tyrosine (LGMD)

                                                                                                                                                                  Description / Indication

                                                                                                                                                                  Phenylketonuria.

                                                                                                                                                                  Method:

                                                                                                                                                                  tandem MS

                                                                                                                                                                  TAT:

                                                                                                                                                                  3-4 weeks

                                                                                                                                                                  Price:

                                                                                                                                                                  € 140

                                                                                                                                                                  Materials:

                                                                                                                                                                  Blood spot:

                                                                                                                                                                  • Amount: 1 dried bloodspot, 40 µl of blood on a guthrie card.
                                                                                                                                                                  • Conditions: Room temperature.
                                                                                                                                                                  • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

                                                                                                                                                                    Phytanic and pristanic acid (LGMD)

                                                                                                                                                                    Description / Indication

                                                                                                                                                                    Peroxisomal defects, Refsum disease.

                                                                                                                                                                    Method:

                                                                                                                                                                    GC/GCMS

                                                                                                                                                                    TAT:

                                                                                                                                                                    3-4 weeks

                                                                                                                                                                    Price:

                                                                                                                                                                    € 140

                                                                                                                                                                    Materials:

                                                                                                                                                                    Plasma:

                                                                                                                                                                    • Amount: 500 µl.
                                                                                                                                                                    • Conditions: Dry ice.
                                                                                                                                                                    • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                      Pipecolic acid (LGMD)

                                                                                                                                                                      Description / Indication

                                                                                                                                                                      Peroxisomal defects, vitamin B6-responsive seizures due to a alpha-aminoadipic semialdehyde (alpha-ASA) dehydrogenase (antiquitin) deficiency. This metabolite is included in the metabolic epilepsy screening.

                                                                                                                                                                      Method:

                                                                                                                                                                      LC tandem MS

                                                                                                                                                                      TAT:

                                                                                                                                                                      3-4 weeks

                                                                                                                                                                      Price:

                                                                                                                                                                      € 140

                                                                                                                                                                      Materials:

                                                                                                                                                                      CSF:

                                                                                                                                                                      • Amount: 500 µl.
                                                                                                                                                                      • Conditions: Dry ice.
                                                                                                                                                                      • Specifics: CSF sample protocol.

                                                                                                                                                                      Plasma:

                                                                                                                                                                      • Amount: 200 µl.
                                                                                                                                                                      • Conditions: Dry ice.
                                                                                                                                                                      • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                        Plasmalogens (LGMD)

                                                                                                                                                                        Description / Indication

                                                                                                                                                                        Peroxisomal defects.

                                                                                                                                                                        Method:

                                                                                                                                                                        LC tandem MS

                                                                                                                                                                        TAT:

                                                                                                                                                                        3-4 weeks

                                                                                                                                                                        Price:

                                                                                                                                                                        € 140

                                                                                                                                                                        Materials:

                                                                                                                                                                        Erythrocytes:

                                                                                                                                                                        • Amount: 1 ml of whole EDTA blood.
                                                                                                                                                                        • Conditions: Room temperature.
                                                                                                                                                                        • Specifics: Sample must arrive at our laboratory within 24 hours.

                                                                                                                                                                            Polyols and sugars (LGMD)

                                                                                                                                                                            Description / Indication

                                                                                                                                                                            Transaldolase deficiency, ribose 5-phosphate isomerase deficiency.

                                                                                                                                                                            Method:

                                                                                                                                                                            GC/GCMS

                                                                                                                                                                            TAT:

                                                                                                                                                                            3-4 weeks

                                                                                                                                                                            Price:

                                                                                                                                                                            € 140

                                                                                                                                                                            Materials:

                                                                                                                                                                            Urine:

                                                                                                                                                                            • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                                            • Conditions: Dry ice.

                                                                                                                                                                                Pterins (LGMD)

                                                                                                                                                                                Description / Indication

                                                                                                                                                                                Pterin synthesis and regeneration defects, phenylketonuria and neurotransmitter defects.

                                                                                                                                                                                Method:

                                                                                                                                                                                HPLC

                                                                                                                                                                                TAT:

                                                                                                                                                                                3-4 weeks

                                                                                                                                                                                Price:

                                                                                                                                                                                € 140

                                                                                                                                                                                Materials:

                                                                                                                                                                                CSF:

                                                                                                                                                                                • Amount: 250 µl.
                                                                                                                                                                                • Conditions: Dry ice, tubes wrapped in aluminum foil.
                                                                                                                                                                                • Specifics: CSF sample protocol.

                                                                                                                                                                                Plasma:

                                                                                                                                                                                • Amount: 250 µl.
                                                                                                                                                                                • Conditions: Dry ice, tubes wrapped in aluminum foil.
                                                                                                                                                                                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
                                                                                                                                                                                Purines (LGMD)

                                                                                                                                                                                Description / Indication

                                                                                                                                                                                Purine synthesis, salvage and degradation defects.

                                                                                                                                                                                Method:

                                                                                                                                                                                LC tandem MS

                                                                                                                                                                                TAT:

                                                                                                                                                                                3-4 weeks

                                                                                                                                                                                Price:

                                                                                                                                                                                € 140

                                                                                                                                                                                Materials:

                                                                                                                                                                                CSF:

                                                                                                                                                                                • Amount: 500 µl.
                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                • Specifics: CSF sample protocol.

                                                                                                                                                                                Plasma:

                                                                                                                                                                                • Amount: 500 µl.
                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                Urine:

                                                                                                                                                                                • Amount: 1 ml, random specimen or 24-hour urine.
                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                Pyridoxal phosphate (B6 vitamers) (LGMD)

                                                                                                                                                                                Description / Indication

                                                                                                                                                                                Pyridoxal phosphate, pyridoxal and pyridoxine; vitamin B6 responsive seizures; antiquitin deficiency and pyridoxamine 5-phosphate oxidase deficiency.

                                                                                                                                                                                Method:

                                                                                                                                                                                LC-MS

                                                                                                                                                                                TAT:

                                                                                                                                                                                3-4 weeks

                                                                                                                                                                                Price:

                                                                                                                                                                                € 140

                                                                                                                                                                                Materials:

                                                                                                                                                                                CSF:

                                                                                                                                                                                • Amount: 200 µl.
                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                • Specifics: CSF sample protocol.

                                                                                                                                                                                Plasma:

                                                                                                                                                                                • Amount: 200 µl.
                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                  Pyrimidine biosynthesis intermediates (LGMD)

                                                                                                                                                                                  Description / Indication

                                                                                                                                                                                  Orotic acid, orotidine and related metabolites; urea cycle defects.

                                                                                                                                                                                  Method:

                                                                                                                                                                                  LC tandem MS

                                                                                                                                                                                  TAT:

                                                                                                                                                                                  3-4 weeks

                                                                                                                                                                                  Price:

                                                                                                                                                                                  € 140

                                                                                                                                                                                  Materials:

                                                                                                                                                                                  Urine:

                                                                                                                                                                                  • Amount: 1 ml, random specimen or 24-hour collection
                                                                                                                                                                                  • Conditions: Dry ice.

                                                                                                                                                                                      Pyrimidines (LGMD)

                                                                                                                                                                                      Description / Indication

                                                                                                                                                                                      Pyrimidine degradation defects; e.g. dihydropyrimidine dehydrogenase deficiency.

                                                                                                                                                                                      Method:

                                                                                                                                                                                      LC tandem MS

                                                                                                                                                                                      TAT:

                                                                                                                                                                                      3-4 weeks

                                                                                                                                                                                      Price:

                                                                                                                                                                                      € 140

                                                                                                                                                                                      Materials:

                                                                                                                                                                                      Blood spot:

                                                                                                                                                                                      • Amount: 4 dried bloodspots of 40 µl blood on a guthrie card.
                                                                                                                                                                                      • Conditions: Room temperature.
                                                                                                                                                                                      • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

                                                                                                                                                                                      CSF:

                                                                                                                                                                                      • Amount: 300 µl.
                                                                                                                                                                                      • Conditions: Dry ice.
                                                                                                                                                                                      • Specifics: CSF sample protocol.

                                                                                                                                                                                      Plasma:

                                                                                                                                                                                      • Amount: 300 µl.
                                                                                                                                                                                      • Conditions: Dry ice.
                                                                                                                                                                                      • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                      Urine:

                                                                                                                                                                                      • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                                                      • Conditions: Dry ice.

                                                                                                                                                                                      Urine spot:

                                                                                                                                                                                      • Amount: 12 mm x 40 mm filterpaper containing urine, dry.
                                                                                                                                                                                      • Conditions: Room temperature.
                                                                                                                                                                                        S-adenosylmethionine and S-adenosylhomocysteine (SAM / SAH) (LGMD)

                                                                                                                                                                                        Description / Indication

                                                                                                                                                                                        Hypermethioninemias and homocystinurias, methylation defects.

                                                                                                                                                                                        Method:

                                                                                                                                                                                        LC tandem MS

                                                                                                                                                                                        TAT:

                                                                                                                                                                                        3-4 weeks

                                                                                                                                                                                        Price:

                                                                                                                                                                                        € 140

                                                                                                                                                                                        Materials:

                                                                                                                                                                                        CSF:

                                                                                                                                                                                        • Amount: 500 µl.
                                                                                                                                                                                        • Conditions: Dry ice.
                                                                                                                                                                                        • Specifics: CSF sample protocol.

                                                                                                                                                                                        Plasma:

                                                                                                                                                                                        • Amount: 500 µl.
                                                                                                                                                                                        • Conditions: Dry ice.
                                                                                                                                                                                        • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                          Sialic acid (LGMD)

                                                                                                                                                                                          Description / Indication

                                                                                                                                                                                          Sialic acid storage disorders (sialuria, Salla disease).

                                                                                                                                                                                          Method:

                                                                                                                                                                                          LC tandem MS

                                                                                                                                                                                          TAT:

                                                                                                                                                                                          3-4 weeks

                                                                                                                                                                                          Price:

                                                                                                                                                                                          € 140

                                                                                                                                                                                          Materials:

                                                                                                                                                                                          Urine:

                                                                                                                                                                                          • Amount: 500 µl, random specimen or 24-hour urine.
                                                                                                                                                                                          • Conditions: Dry ice.

                                                                                                                                                                                              Sialotransferrins (LGMD)

                                                                                                                                                                                              Description / Indication

                                                                                                                                                                                              CDG syndromes, N-linked glycoproteins.

                                                                                                                                                                                              Method:

                                                                                                                                                                                              Transferrin isoelectric focusing (TIEF)

                                                                                                                                                                                              TAT:

                                                                                                                                                                                              3-4 weeks

                                                                                                                                                                                              Price:

                                                                                                                                                                                              € 140

                                                                                                                                                                                              Materials:

                                                                                                                                                                                              Plasma:

                                                                                                                                                                                              • Amount: 200 µl.
                                                                                                                                                                                              • Conditions: Dry ice.
                                                                                                                                                                                              • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                              Serum:

                                                                                                                                                                                              • Amount: 200 µl.
                                                                                                                                                                                              • Conditions: Dry ice.

                                                                                                                                                                                                  Sphingolipids (LGMD)

                                                                                                                                                                                                  Description / Indication

                                                                                                                                                                                                  Screening test for sphingolipidoses. The following metabolites are measured: lysosfingomyelin (Niemann-Pick type A en B), lysosfingomyelin-509 (Niemann-Pick type C), lysoceramidetrihexoside (Fabry disease) lysoglucosylceramide (Gaucher disease) and lysogalactosylceramide (Krabbe disease).

                                                                                                                                                                                                  Method:

                                                                                                                                                                                                  LC-MS

                                                                                                                                                                                                  TAT:

                                                                                                                                                                                                  3-4 weeks

                                                                                                                                                                                                  Price:

                                                                                                                                                                                                  € 140

                                                                                                                                                                                                  Materials:

                                                                                                                                                                                                  Plasma:

                                                                                                                                                                                                    • Amount: 100 µl.
                                                                                                                                                                                                    • Conditions: Dry ice.

                                                                                                                                                                                                        Sterols (LGMD)

                                                                                                                                                                                                        Description / Indication

                                                                                                                                                                                                        Cholesterol biosynthesis defects, cerebrotendinous xanthomatosis.

                                                                                                                                                                                                        Method:

                                                                                                                                                                                                        GC/GCMS

                                                                                                                                                                                                        TAT:

                                                                                                                                                                                                        3-4 weeks

                                                                                                                                                                                                        Price:

                                                                                                                                                                                                        € 140

                                                                                                                                                                                                        Materials:

                                                                                                                                                                                                        Plasma:

                                                                                                                                                                                                            • Amount: 500 µl.
                                                                                                                                                                                                            • Conditions: Dry ice.
                                                                                                                                                                                                            • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                                          Serum:

                                                                                                                                                                                                            • Amount: 500 µl.
                                                                                                                                                                                                            • Conditions: Dry ice.
                                                                                                                                                                                                            Succinylacetone (LGMD)

                                                                                                                                                                                                            Description / Indication

                                                                                                                                                                                                            Tyrosinemia type I.

                                                                                                                                                                                                            Method:

                                                                                                                                                                                                            GC/GCMS

                                                                                                                                                                                                            TAT:

                                                                                                                                                                                                            3-4 weeks

                                                                                                                                                                                                            Price:

                                                                                                                                                                                                            € 140

                                                                                                                                                                                                            Materials:

                                                                                                                                                                                                            Urine:

                                                                                                                                                                                                                • Amount: 5 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                                              Sulfatides (LGMD)

                                                                                                                                                                                                              Description / Indication

                                                                                                                                                                                                              Sulfatides are the main storage product in metachromatic leukodystrophy. Their determination in urine is useful to confirm the diagnosis metachromatic leukodystrophy, when a deficiency of arylsulfatase A is observed, to exclude a pseudodeficiency and to provide evidence for an activator protein (Saposin B) deficiency.

                                                                                                                                                                                                              Method:

                                                                                                                                                                                                              LC tandem MS

                                                                                                                                                                                                              TAT:

                                                                                                                                                                                                              3-4 weeks

                                                                                                                                                                                                              Price:

                                                                                                                                                                                                              € 225

                                                                                                                                                                                                              Materials:

                                                                                                                                                                                                              Urine:

                                                                                                                                                                                                                  • Amount: 2 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                  • Conditions: Dry ice.
                                                                                                                                                                                                                Sulphite and thiosulphate (LGMD)

                                                                                                                                                                                                                Description / Indication

                                                                                                                                                                                                                Sulphite oxidase / Molybdenum cofactor deficiency.

                                                                                                                                                                                                                Method:

                                                                                                                                                                                                                Ion chromatography

                                                                                                                                                                                                                TAT:

                                                                                                                                                                                                                3-4 weeks

                                                                                                                                                                                                                Price:

                                                                                                                                                                                                                € 140

                                                                                                                                                                                                                Materials:

                                                                                                                                                                                                                Urine:

                                                                                                                                                                                                                    • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                    • Conditions: Dry ice.
                                                                                                                                                                                                                  Very long-chain fatty acids (LGMD)

                                                                                                                                                                                                                  Description / Indication

                                                                                                                                                                                                                  Peroxisomal disorders, X-ALD.

                                                                                                                                                                                                                  Method:

                                                                                                                                                                                                                  GC/GCMS

                                                                                                                                                                                                                  TAT:

                                                                                                                                                                                                                  3-4 weeks

                                                                                                                                                                                                                  Price:

                                                                                                                                                                                                                  € 140

                                                                                                                                                                                                                  Materials:

                                                                                                                                                                                                                  Plasma:

                                                                                                                                                                                                                      • Amount: 500 µl
                                                                                                                                                                                                                      • Conditions: Dry ice.
                                                                                                                                                                                                                      • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
                                                                                                                                                                                                                    Carnitine biosynthesis intermediates (LGMD)

                                                                                                                                                                                                                    Description / Indication

                                                                                                                                                                                                                    Trimethyllysine, hydroxytrimethyllysine, gamma-butyrobetaine, biosynthetic precursors of carnitine, carnitine deficiency, TMLHE deficiency (autism spectrum disorders).

                                                                                                                                                                                                                    Method:

                                                                                                                                                                                                                    LC tandem MS

                                                                                                                                                                                                                    TAT:

                                                                                                                                                                                                                    On request

                                                                                                                                                                                                                    Price:

                                                                                                                                                                                                                    On request

                                                                                                                                                                                                                    Note:

                                                                                                                                                                                                                    This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                    Materials:

                                                                                                                                                                                                                    Plasma:

                                                                                                                                                                                                                        • Amount: 250 µl.
                                                                                                                                                                                                                        • Conditions: Dry ice.
                                                                                                                                                                                                                        • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                                                      Urine:

                                                                                                                                                                                                                          • Amount: 1 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                          • Conditions: Dry ice.
                                                                                                                                                                                                                        Glucosylceramide (LGMD)

                                                                                                                                                                                                                        Description / Indication

                                                                                                                                                                                                                        Glucosylceramide / GlcCer is the main storage product in Gaucher disease. Its determination in plasma and urine is useful in the diagnosis of Gaucher disease due to glucocerebrosidase (beta-glucosidase) deficiency or due to an activator protein (Saposin C) deficiency.

                                                                                                                                                                                                                        Method:

                                                                                                                                                                                                                        UPLC tandem MS

                                                                                                                                                                                                                        TAT:

                                                                                                                                                                                                                        On request

                                                                                                                                                                                                                        Price:

                                                                                                                                                                                                                        On request

                                                                                                                                                                                                                        Note:

                                                                                                                                                                                                                        This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                        Materials:

                                                                                                                                                                                                                        Plasma:

                                                                                                                                                                                                                            • Amount: 500 µl.
                                                                                                                                                                                                                            • Conditions: Dry ice.
                                                                                                                                                                                                                            • Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).

                                                                                                                                                                                                                          Urine:

                                                                                                                                                                                                                              • Amount: 2 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                              • Conditions: Dry ice.
                                                                                                                                                                                                                            Glucosylsphingosine (LGMD)

                                                                                                                                                                                                                            Description / Indication

                                                                                                                                                                                                                            Glucosylsphingosine / lysoglucosylcerebroside is a storageproduct in Gaucher disease. Its determination is useful in the diagnosis of Gaucher disease due to glucocerebrosidase (beta-glucosidase) deficiency or due to an activator protein (Saposin B) deficiency.

                                                                                                                                                                                                                            Method:

                                                                                                                                                                                                                            UPLC tandem MS

                                                                                                                                                                                                                            TAT:

                                                                                                                                                                                                                            On request

                                                                                                                                                                                                                            Price:

                                                                                                                                                                                                                            On request

                                                                                                                                                                                                                            Note:

                                                                                                                                                                                                                            This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                            Materials:

                                                                                                                                                                                                                            Plasma:

                                                                                                                                                                                                                                • Amount: 500 µl.
                                                                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                                                                • Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).

                                                                                                                                                                                                                                8_hydroxydeoxyguanosine (LGMD)

                                                                                                                                                                                                                                Description / Indication

                                                                                                                                                                                                                                Marker of oxidative stress.

                                                                                                                                                                                                                                Method:

                                                                                                                                                                                                                                HPLC

                                                                                                                                                                                                                                TAT:

                                                                                                                                                                                                                                On request

                                                                                                                                                                                                                                Price:

                                                                                                                                                                                                                                On request

                                                                                                                                                                                                                                Note:

                                                                                                                                                                                                                                This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                                Materials:

                                                                                                                                                                                                                                Urine:

                                                                                                                                                                                                                                    • Amount: 1 ml, 24-hour urine.
                                                                                                                                                                                                                                    • Conditions: Dry ice.

                                                                                                                                                                                                                                    Isoprostanes (LGMD)

                                                                                                                                                                                                                                    Description / Indication

                                                                                                                                                                                                                                    Marker of cyclooxygenase-indepent lipid peroxidation.

                                                                                                                                                                                                                                    Method:

                                                                                                                                                                                                                                    LC tandem MS

                                                                                                                                                                                                                                    TAT:

                                                                                                                                                                                                                                    On request

                                                                                                                                                                                                                                    Price:

                                                                                                                                                                                                                                    On request

                                                                                                                                                                                                                                    Note:

                                                                                                                                                                                                                                    This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                                    Materials:

                                                                                                                                                                                                                                    Urine:

                                                                                                                                                                                                                                        • Amount: 5 ml, random specimen or 24-hour collection.
                                                                                                                                                                                                                                        • Conditions: Dry ice.

                                                                                                                                                                                                                                        Malondialdehyde (LGMD)

                                                                                                                                                                                                                                        Description / Indication

                                                                                                                                                                                                                                        Marker of lipid peroxidaton.

                                                                                                                                                                                                                                        Method:

                                                                                                                                                                                                                                        LC tandem MS

                                                                                                                                                                                                                                        TAT:

                                                                                                                                                                                                                                        On request

                                                                                                                                                                                                                                        Price:

                                                                                                                                                                                                                                        On request

                                                                                                                                                                                                                                        Note:

                                                                                                                                                                                                                                        This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                                        Materials:

                                                                                                                                                                                                                                        Plasma:

                                                                                                                                                                                                                                            • Amount: 500 µl.
                                                                                                                                                                                                                                            • Conditions: Dry ice.
                                                                                                                                                                                                                                            • Specifics: Store / send under argon.
                                                                                                                                                                                                                                              EDTA plasma (preferred material), heparin plasma also suitable.

                                                                                                                                                                                                                                          Tissue:

                                                                                                                                                                                                                                              • Amount: On request.
                                                                                                                                                                                                                                              • Conditions: Dry ice.
                                                                                                                                                                                                                                              • Specifics: First contact the laboratory specialist.
                                                                                                                                                                                                                                            Ubiquinon / Q10 (LGMD)

                                                                                                                                                                                                                                            Description / Indication

                                                                                                                                                                                                                                            Mitochondrial diseases, Q10 synthesis defects and MADD.

                                                                                                                                                                                                                                            Method:

                                                                                                                                                                                                                                            LC tandem MS

                                                                                                                                                                                                                                            TAT:

                                                                                                                                                                                                                                            On request

                                                                                                                                                                                                                                            Price:

                                                                                                                                                                                                                                            On request

                                                                                                                                                                                                                                            Note:

                                                                                                                                                                                                                                            This test is not covered by the accreditation of the laboratory.

                                                                                                                                                                                                                                            Materials:

                                                                                                                                                                                                                                            Plasma:

                                                                                                                                                                                                                                                • Amount: 500 µl.
                                                                                                                                                                                                                                                • Conditions: Dry ice.
                                                                                                                                                                                                                                                • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.