Metabolites

Acylcarnitine: Isomer separation

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

UPLC-MS/MS

TAT

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

Description / Indication

Fatty acid oxidation defects, organic acidemias.

Method

MS/MS

TAT

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 (α-ASA)

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-MS/MS

TAT

4 weeks

Price

€ 140

Materials:


Urine

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

Description / Indication

Aminoacidopathies, nutrional studies.

Method

Amino acid analyser

TAT

4 weeks

Price

€ 140

Materials:


CSF

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

    Description / Indication

    Bile acid synthesis defects, peroxisomal disorders and cholestatic jaundice.

    Method

    HPLC-MS/MS

    TAT

    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.

    * Note: Testing in this material is not covered by the accreditation of the laboratory.

      Cardiolipins

      Description / Indication

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

      Method

      HPLC-MS/MS

      TAT

      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

      * Note: Testing in this material is not covered by the accreditation of the laboratory.

        Carnitine biosynthesis intermediates *

        Description / Indication

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

        Method

        UPLC-MS/MS

        TAT

        On request

        Price

        On request

        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.

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

        Ceramidetrihexoside (CTH, Gb3) *

        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-MS/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

          Description / Indication

          Cerebrotendinous xanthomatosis.

          Method

          GC-FID

          TAT

          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

            Description / Indication

            Creatine synthesis and transport defects.

            Method

            UPLC-MS/MS

            TAT

            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

              Description / Indication

              X-ALD, peroxisomal disorders.

              Method

              HPLC-MS/MS

              TAT

              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

                Description / Indication

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

                Method

                HPLC-MS/MS

                TAT

                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.

                Plasma *

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

                * Note: Testing in this material is not covered by the accreditation of the laboratory.

                  D- and L-2-hydroxyglutaric acid

                  Description / Indication

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

                  Method

                  GC-FID

                  TAT

                  4 weeks

                  Price

                  € 140

                  Materials:


                  Urine

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

                    Description / Indication

                    Mitochondrial diseases, metabolic acidosis.

                    Method

                    LCMS

                    TAT

                    4 weeks

                    Price

                    € 140

                    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.
                    • Specifics: CSF sample protocol.

                    * Note: Testing in this material is not covered by the accreditation of the laboratory.

                      Essential fatty acids (PUFAs)

                      Description / Indication

                      Nutritional studies.

                      Method

                      GC-FID

                      TAT

                      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

                        Description / Indication

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

                        Method

                        HPLC-fluorescence

                        TAT

                        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

                          Description / indication

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

                          Method

                          GC-MS

                          Test frequency

                          4 weeks

                          Price

                          € 140

                          Materials:


                          Erythrocytes

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

                          Description / Indication

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

                          Method

                          LC-MS

                          TAT

                          4 weeks

                          Price

                          € 140

                          Materials:


                          CSF

                            Glycosaminoglycans (GAGs)

                            Description / Indication

                            Mucopolysaccharidoses.

                            Method

                            HPLC-MS/MS

                            TAT

                            4 weeks

                            Price

                            € 140

                            Materials:


                            Urine

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

                              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

                              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.
                              Homocarnosine (GABA-histidine)

                              Description / Indication

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

                              Method

                              UPLC-MS/MS

                              TAT

                              4 weeks

                              Price

                              € 140

                              Materials:


                              CSF

                                Homocysteine

                                Description / Indication

                                Homocystinurias.

                                Method

                                UPLC-MS/MS

                                TAT

                                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).
                                  8-hydroxydeoxyguanosine *

                                  Description / Indication

                                  Marker of oxidative stress.

                                  Method

                                  HPLC-electrochemistry

                                  TAT

                                  On request

                                  Price

                                  On request

                                  Materials:


                                  Urine

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

                                  * Note: This test is not covered by the accreditation of the laboratory.

                                  5-Hydroxytryptophan

                                  Description / Indication

                                  Tryptophan metabolism defects (tryptophan hydroxylase deficiency, or pterin defects)

                                  Method

                                  HPLC-fluorescence

                                  TAT

                                  4 weeks

                                  Price

                                  € 140

                                  Materials:


                                  CSF

                                  Ketones

                                  Description / Indication

                                  Ketosis (acetoacetate, 3-hydroxybutyrate).

                                  Method

                                  UPLC-MS/MS

                                  TAT

                                  4 weeks

                                  Price

                                  € 140

                                  Materials:


                                  Deproteinized fluoride or EDTA blood

                                  Deproteinized CSF *

                                  * Note: Testing in this material is not covered by the accreditation of the laboratory.

                                    Lactate and Pyruvate

                                    Description / Indication

                                    Mitochondrial diseases, metabolic acidosis.

                                    Method

                                    UPLC-MS/MS

                                    TAT

                                    4 weeks

                                    Price

                                    € 55

                                    Materials:


                                    Deproteinized fluoride or EDTA blood

                                    Deproteinized CSF

                                    Lysoceramidetrihexoside (LysoCTH, LysoGb3)

                                    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

                                    UPLC-MS/MS

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Plasma

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

                                    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-MS/MS

                                    TAT

                                    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).
                                    Lysosphingolipids

                                    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

                                    UPLC-MS/MS

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Plasma

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

                                    Description / Indication

                                    Marker of lipid peroxidaton.

                                    Method

                                    LC tandem MS

                                    TAT

                                    On request

                                    Price

                                    On request

                                    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.

                                    * Note: This test is not covered by the accreditation of the laboratory.

                                    Methylmalonic acid

                                    Description / Indication

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

                                    Method

                                    HPLC-MS/MS

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Plasma

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

                                    Description / Indication

                                    Marker of folate deficiency / folate transport defects.

                                    Method

                                    HPLC-fluorescence

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    CSF

                                    Mevalonic acid

                                    Description / Indication

                                    Hyper IgD syndrome / mevalonate kinase deficiency.

                                    Method

                                    GC-MS

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Urine

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

                                    Description / Indication

                                    Oligosaccharidoses.

                                    Method

                                    Thin layer chromatography

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Urine

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

                                    Description / Indication

                                    Organic acidurias.

                                    Method

                                    GC-FID

                                    TAT

                                    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.

                                    * Note: Testing in this material is not covered by the accreditation of the laboratory.

                                    Oxalic acid

                                    Description / Indication

                                    Hyperoxalurias, renal stones.

                                    Method

                                    Ion chromatography

                                    TAT

                                    4 weeks

                                    Price

                                    € 140

                                    Materials:


                                    Urine

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

                                      Oxalic and glycolic acid

                                      Description / Indication

                                      Hyperoxalurias, renal stones.

                                      Method

                                      GC-MS

                                      TAT

                                      4 weeks

                                      Price

                                      € 140

                                      Materials:


                                      Deproteinized heparin plasma

                                      Oxysterols

                                      Description / Indication

                                      Niemann-Pick disease, type C

                                      Method

                                      UPLC-MS/MS

                                      TAT

                                      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 *

                                      Description / Indication

                                      Assessment of fetal lung maturation.

                                      Method

                                      GC-FID

                                      TAT

                                      On request

                                      Price

                                      € 140

                                      Materials:


                                      Amniotic fluid

                                      • Amount: 1 ml.
                                      • Conditions: Dry ice.

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

                                      Phenolic acids

                                      Description / Indication

                                      Neurotransmitters defects.

                                      Method

                                      HPLC

                                      TAT

                                      4 weeks

                                      Price

                                      € 140

                                      Materials:


                                      CSF

                                      Plasma

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

                                        Phenylalanine and tyrosine

                                        Description / Indication

                                        Phenylketonuria.

                                        Method

                                        MS/MS

                                        TAT

                                        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

                                          Description / Indication

                                          Peroxisomal defects, Refsum disease.

                                          Method

                                          GC-MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Plasma

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

                                          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

                                          UPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          CSF

                                          Plasma

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

                                          Description / Indication

                                          Peroxisomal defects.

                                          Method

                                          GC-FID

                                          TAT

                                          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

                                          Description / Indication

                                          Transaldolase deficiency, ribose 5-phosphate isomerase deficiency.

                                          Method

                                          GC-FID

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

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

                                          Description / Indication

                                          Pterin synthesis and regeneration defects, phenylketonuria and neurotransmitter defects.

                                          Method

                                          HPLC-fluorescence

                                          TAT

                                          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

                                          Description / Indication

                                          Purine synthesis, salvage and degradation defects.

                                          Method

                                          UPLC-MS/MS

                                          TAT

                                          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)

                                          Description / Indication

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

                                          Method

                                          UPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          CSF

                                          Plasma

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

                                          Description / Indication

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

                                          Method

                                          HPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

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

                                          Description / Indication

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

                                          Method

                                          HPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          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.

                                          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 *

                                          Plasma *

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

                                          * Note: Testing in this material is not covered by the accreditation of the laboratory.

                                          S-adenosylmethionine and S-adenosylhomocysteine (SAM / SAH) *

                                          Description / Indication

                                          Hypermethioninemias and homocystinurias, methylation defects.

                                          Method

                                          HPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          CSF

                                          Plasma

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

                                          * Note: This test is not covered by the accreditation of the laboratory.

                                          Sialic acid

                                          Description / Indication

                                          Sialic acid storage disorders (sialuria, Salla disease).

                                          Method

                                          UPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

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

                                          Description / Indication

                                          CDG syndromes, N-linked glycoproteins.

                                          Method

                                          Transferrin isoelectric focusing (TIEF)

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Note: This test is temporarily outsourced to the Metabolic Unit of the Amsterdam UMC, location VUmc

                                          Materials:


                                          Plasma

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

                                          Serum

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

                                          Description / Indication

                                          Cholesterol biosynthesis defects, cerebrotendinous xanthomatosis.

                                          Method

                                          GC-FID

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Plasma

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

                                          Description / Indication

                                          Tyrosinemia type I.

                                          Method

                                          GC-MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

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

                                          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

                                          UPLC-MS/MS

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

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

                                          Description / Indication

                                          Sulphite oxidase / Molybdenum cofactor deficiency.

                                          Method

                                          Ion chromatography

                                          TAT

                                          4 weeks

                                          Price

                                          € 140

                                          Materials:


                                          Urine

                                          • Amount: 1 ml, random specimen or 24-hour collection.
                                          • Conditions: Dry ice.
                                          Ubiquinon / Q10 *

                                          Description / Indication

                                          Mitochondrial diseases, Q10 synthesis defects and MADD.

                                          Method

                                          UPLC-MS/MS

                                          TAT

                                          On request

                                          Price

                                          On request

                                          Materials:


                                          Plasma

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

                                          * Note: This test is not covered by the accreditation of the laboratory.

                                          Very long-chain fatty acids

                                          Description / Indication

                                          Peroxisomal disorders, X-ALD.

                                          Method

                                          GC-MS

                                          TAT

                                          4 weeks (excl. culture time for fibroblasts).

                                          Price

                                          € 140

                                          Materials:


                                          Plasma

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

                                          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.