Metabolites
The current reference values are stated in the letter with the results.
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
€ 216
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.
Description / Indication
Fatty acid oxidation defects, organic acidemias.
Method
MS/MS
TAT
4 weeks
Price
€ 216
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.
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
€ 216
Materials:
Urine
- Amount: 500 µl, random specimen or 24-hour urine.
- Conditions: Dry ice.
Description / Indication
Aminoacidopathies, nutrional studies.
Method
Amino acid analyser
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Bile acid synthesis defects, peroxisomal disorders and cholestatic jaundice.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Functional test for Barth syndrome in blood spot. This material is preferred and is sufficient to rule out/confirm Barth syndrome. Also possible in lymphocytes, fibroblasts and tissue.
Method
HPLC-MS/MS
TAT
4 weeks (excl. culture time for fibroblasts).
Price
€ 216
Costs in case of fibroblast culturing are 278 euro's.
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.
Blood
- Amount: 5 ml
- Conditions: room temperature
- Specifics: Blood samples need to arrive in our laboratory within 48 hours after drawing.
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.
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 ISO15189 accreditation of the laboratory.
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.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.
Description / Indication
Cerebrotendinous xanthomatosis.
Method
GC-FID
TAT
4 weeks
Price
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
Description / Indication
Creatine synthesis and transport defects.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
X-ALD, peroxisomal disorders.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Accumulation of very long-chain fatty acids in lipids. X-ALD, peroxisomal disorders.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Differentiation between L- and D-2-hydroxyglutaric acidurias.
Method
GC-FID
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 5 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Description / Indication
Mitochondrial diseases, metabolic acidosis.
Method
LCMS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Nutritional studies.
Method
GC-FID
TAT
4 weeks.
Price
€ 216 (each test)
EDTA whole blood, or plasma and/or washed erythrocytes, 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, washed and frozen)
- Amount: See protocol.
- Conditions: -20°C / dry ice.
- Specifics: Erythrocytes Essential Fatty Acids protocol.
Erythrocytes (isolated by us 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 |
Description / Indication
Riboflavin, FMN and FAD; Flavin synthesis/transport defects.
Method
HPLC-fluorescence
TAT
4 weeks
Price
€ 216
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).
Description / Indication
Neurotransmitter defects, pterin synthesis and regeneration defects, phenylketonuria, cerebral folate deficiency, folate transport defects.
In plasma, only the pterins (total neopterin and total bopterin) are determined.
In CSF, the pterins (total neopterin and total bopterin), phenolic acids (5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), 3-methoxy-4-hydroxyphenylglycol (MHPG), 3-O-Methyldopa (3-OMD ), VLA (vanillactic acid)) and 5-hydroxytryptophan (5-HTP) and 5-methyltetrahydrofolate (5-MTHF) are determined.
Method
LC-MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / indication
Measurement of the levels of galactose-1-phosphate is performed as therapy control for patients diagnosed with galactosemia type 1.
Method
In this assay, using alkaline phosphatase, galactose-1-phosphate is converted to galactose which is measured by GC-MS.
Test frequency
4 weeks
Price
€ 216
Materials:
Erythrocytes
- Amount: 2 ml of whole blood.
- Conditions: Room temperature.
- Specifics: Sample must arrive at our lab within 48 hours.
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
€ 216
Materials:
CSF
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
Description / Indication
Mucopolysaccharidoses.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
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.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.
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
€ 216
Materials:
CSF
- Amount: 250 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
Description / Indication
Homocystinurias.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
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).
Description / Indication
Hyperoxaluria type III, 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) deficiency, renal stones.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 500 µl, random specimen or 24-hour urine.
- Conditions: Dry ice.
Description / Indication
Ketosis (acetoacetate, 3-hydroxybutyrate).
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
* Note: Testing in this material is not covered by the accreditation of the laboratory.
Description / Indication
Mitochondrial diseases, metabolic acidosis.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 61
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.
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
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
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
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).
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
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
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 ISO15189 accreditation of the laboratory.
Description / Indication
Marker of vitamin B12/cobalamin deficiency, cobalamin synthesis/transport defects.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
Description / Indication
Marker of folate deficiency / folate transport defects.
Method
HPLC-fluorescence
TAT
4 weeks
Price
€ 216
Materials:
CSF
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
Description / Indication
Hyper IgD syndrome / mevalonate kinase deficiency.
Method
GC-MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Description / Indication
Oligosaccharidoses.
Method
Thin layer chromatography
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Description / Indication
Organic acidurias.
Method
GC-FID
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Hyperoxalurias, renal stones.
Method
Ion chromatography
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
Conditions: Dry ice.
Description / Indication
Hyperoxalurias, renal stones.
Method
GC-MS
TAT
4 weeks
Price
€ 216
Materials:
Deproteinized heparin plasma
- Amount: See protocol.
- Conditions: Dry ice.
- Specifics: Plasma oxalate protocol.
Description / Indication
Niemann-Pick disease, type C
Method
UPLC-MS/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).
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.
Description / Indication
Phenylketonuria.
Method
MS/MS
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Peroxisomal defects, Refsum disease.
Method
GC-MS
TAT
4 weeks
Price
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
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
€ 216
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.
Description / Indication
Peroxisomal defects.
Method
GC-FID
TAT
4 weeks
Price
€ 216
Materials:
Erythrocytes
- Amount: 1 ml of whole EDTA blood.
- Conditions: Room temperature.
- Specifics: Sample must arrive at our laboratory within 24 hours.
Description / Indication
Transaldolase deficiency, ribose 5-phosphate isomerase deficiency.
Method
GC-FID
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Plasma *
- Minimale hoeveelheid: 500 µl.
- Bewaren/verzenden: Droogijs.
- Instructie: EDTA-plasma (voorkeur), heparine-plasma mogelijk.
CSF *
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: CSF sample protocol.
* Note: Testing in this material is not covered by the ISO15189 accreditation of the laboratory. Price and TAT on request.
Description / Indication
Pterin synthesis and regeneration defects, phenylketonuria and neurotransmitter defects.
Method
HPLC-fluorescence
TAT
4 weeks
Price
€ 216
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.
Description / Indication
Purine synthesis, salvage and degradation defects.
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour urine.
- Conditions: Dry ice.
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.
* Note: Testing in this material is not covered by the accreditation of the laboratory.
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
€ 216
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.
Description / Indication
Orotic acid, orotidine and related metabolites; urea cycle defects.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection
- Conditions: Dry ice.
Description / Indication
Pyrimidine degradation defects; e.g. dihydropyrimidine dehydrogenase deficiency.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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 *
- 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.
* Note: Testing in this material is not covered by the accreditation of the laboratory.
Description / Indication
Hypermethioninemias and homocystinurias, methylation defects.
Method
HPLC-MS/MS
TAT
4 weeks
Price
€ 216
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.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.
Description / Indication
Sialic acid storage disorders (sialuria, Salla disease).
Method
UPLC-MS/MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 500 µl, random specimen or 24-hour urine.
- Conditions: Dry ice.
Description / Indication
CDG syndromes, N-linked glycoproteins.
Method
Transferrin isoelectric focusing (TIEF)
TAT
4 weeks
Price
€ 216
Materials:
Plasma
- Amount: 200 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
Serum
- Amount: 200 µl.
- Conditions: Dry ice.
Description / Indication
Cholesterol biosynthesis defects, cerebrotendinous xanthomatosis.
Method
GC-FID
TAT
4 weeks
Price
€ 216
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice, tubes wrapped in aluminum foil.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
Description / Indication
Tyrosinemia type I.
Method
GC-MS
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 5 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
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
€ 216
Materials:
Urine
- Amount: 2 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Description / Indication
Sulphite oxidase / Molybdenum cofactor deficiency.
Method
Ion chromatography
TAT
4 weeks
Price
€ 216
Materials:
Urine
- Amount: 1 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
Description / Indication
The analysis of Tryptophan metabolites of the pyrrolase route. The following metabolites are measured: Tryptophan, Kynurenine, OH-Kynurenine, Kynurenine acid, Anthranilic acid, OH-Anthranilic acid, Xanthurenic acid and Quinolinic acid.
Method
LC-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.
Erythrocytes
- Amount: 2 ml of whole blood.
- Conditions: Room temperature.
- Specifics: Sample must arrive at our lab within 48 hours.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.
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 ISO15189 accreditation of the laboratory.
Description / Indication
For analysis of accumulation of very long chain fatty acids in peroxisomal disorders (e.g. X-linked adrenoleucodystrofy (X-ALD)) we analyse C26:0-Lyso-PC (blood) and/or C26:0-Lyso-PC (fibroblasts).
Method
GC-MS
TAT
4 weeks (excl. culture time for fibroblasts).
Price
€ 216
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.