Analyses and indications
Acylcarnitine profile
Indication: Suspicion of Organic aciduria or fatty acid oxidation defects
Material: Dried blood (filter paper card), EDTA plasma
Preparation: DBS: Dry for 2 hours at ambient temperature; Spin EDTA blood, deep freeze supernatant
Shipping conditions: DBS: Ambient temperature; Supernatant frozen or at least cooled by express mail, ideally on dry ice
Amino acids in CSF
Indication: Suspicion of neurometabolic disorder, epileptic encephalopathies
Material: CSF and EDTA-Plasma (1 ml each, sample in parallel and in the fasted state (4 hours))
Preparation: Spin EDTA blood, deep freeze supernatant and CSF immediately (-70 °C); spin CSF in case of blood staining and freeze CSF supernatant.
Shipping conditions: Dry ice
Amino acids in plasma
Indication: Suspicion of amino acid disorders, hyperammonaemia, disorders of energy metabolism
Material: EDTA plasma, fasted 4 hours (1 ml)
Preparation: Spin EDTA blood and freeze supernatant
Shipping conditions: Supernatant frozen or at least cooled by express mail, ideally on dry ice
Amino acids in urine
Indication: Suspicion of Cystinuria, Fanconisyndrome, lysinuric protein intolerance; in hyperammonaemia (in addition to plasma amino acids)
Material: Urine (5-10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Aromatic L-Amino acid decarboxylase activity
Indication: Suspicious results in biogenic amine analysis
Material: EDTA or heparinised plasma; please ask for prescription before sampling
Preparation: Spin blood immediately after sampling and freeze supernatant at -70 °C
Shipping conditions: Dry ice
Biotinidase activity (serum)
Indication: Metabolic acidosis, neurolgical symptoms (seizures), muscular hypotonia, developmental retardation. Screening test when hepatic glycogen storage diseases are suspected.
Material: Serum (1 ml)
Preparation: spin and freeze supernatant
Shipping conditions: Dry ice
Biotinidase activity (dried blood)
Indication: Metabolic acidosis, neurological symptoms (seizures), muscular hypotonia, developmental retardation
Material: Dried blood (filter paper card)
Preparation: Dry 2 hours at ambient temperature. Do not expose to humid heat
Shipping conditions: Ambient temperature
Carnitine status
Indication: Primary and secondary carnitine deficiency states
Material: Serum or EDTA plasma (1 ml)
Preparation: spin and freeze supernatant
Shipping conditions: optimally on dry ice
Carnitine status in urine - Fractional tubular reabsorption
Indication: Suspicion of systemic carnitine deficiency / carnitine transporter deficiency; combine always with carnitin in plasma
Material: Urine (5 ml) collected and sent with a plasma/serum sample
Shipping conditions: Dry ice
CDG diagnostics
Indication: Multisystemic disorder, hepatopathy, mental retardation
Material: Serum (1 ml, do not send plasma!). Dried blood (filter paper card)
Preparation: Serum: Spin and freeze supernatant; DBS: Dry for 2 hours at ambient temperature;
Shipping conditions: DBS: Ambient temperature; Supernatant frozen or at least cooled by express mail, ideally on dry ice
Cholesterol biosynthesis (Sterol analysis)
Indication: Suspicion of Smith-Lemli-Opitz syndrome (SLOS), Conradi-Hünermann syndrome (CDPX2), desmosterolosis, lathosterolosis, cerebroteninous xanthomatosis
Material: EDTA plasma (1 ml)
Preparation: Spin and freeze supernatant
Shipping conditions: Dry ice
Free fatty acids / ketone bodies
Indication: Hypoglycaemia or fasting challenge (report blood glucose level!) to judge function of counterregulatory pathways
Material: EDTA plasma / serum (1 ml), spin and freeze immediately after sampling
Shipping conditions: Dry ice
Galactose-1-phosphate uridyl transferase activity
Indication: Suspicion of classical galactosaemia
Material: Dried blood (filter paper card)
Preparation: Dry blood 2 hours at ambient temperature; do not expose to humid heat
Shipping conditions: Ambient temperature
Galactose and galactose-1-phosphate
Indication: Suspicion of galactosaemia (GALT deficiency, UDP-Gal-4-epimerase, galactokinase deficiency)
Material: Dried blood (filter paper card)
Preparation: Dry blood 2 hours at ambient temperature; do not expose to humid heat
Shipping conditions: Ambient temperature
Bile acid metabolites
Indication: Cholestatic liver disease (suspicion of disorders of bile acid synthesis), peroxisomal disorders, cerebrotendinous xanthomatosis (CTX)
Material: Urine (5-10 ml)
Preparation:Preserve with 4-6 drops of dichlormethane or or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Glutathione
Indication: Suspicion of deficiencies in glutathione synthesis
Material: Washed erythrocytes – please ask for prescription before sampling
Shipping conditions: Dry ice
Guanidino compounds (Creatine, creatinine, guanidinoacetate)
Indication: Suspicion of defects in creatine biosynthesis (GAMT-, AGAT-, creatine transporter deficiency)
Material: Urine (spot urine or – optimally - 24-h collection urine, EDTA plasma (1 ml), CSF (1 ml)
Preparation: Urine: Preserve with 2 drops of dichlormethane or or freeze at – 20°C; plasma: spin EDTA blood and freeze supernatant; CSF: Freeze immediately at -70 °C.
Shipping conditions: Urine: Ambient temperature when preserved, otherwise on dry ice; plasma: supernatant frozen, ideally on dry ice; CSF: dry ice.
Homocysteine in plasma, urine, CSF
Indication: Suspicion of CBS deficiency or other causes of hyperhomocysteinaemia (early thromboembolic events, progressive neuropathy, megaloblastic anemia, microcephaly, mental retardation)
Material: EDTA plasma (1 ml), urine, CSF (1 ml)
Preparation: Fasting sample (4 hours), spin EDTA blood and freeze supernatant
Shipping conditions: Supernatant on dry ice or at least cooled by express mail
Lactate, Pyruvate
Indication: Suspicion of respiratory chain disorders (only when lactate is elevated)
Material: Perchloric acid extract of full blood in the pre- and postprandial state. Please ask for prescription before sampling
Shipping conditions: Dry ice
CSF lactate
Indication: Suspicion of respiratory chain disorders (only when lactate is elevated)
Material: CSF (1 ml)
Preparation: Freeze immediately at -70 °C
Shipping conditions: Dry ice
Lysosomal diagnostics (Determination of enzyme acitivities)
Indication: Suspicion of lysosomal storage disorders, if no screening test is available
Material: Full blood, heparinised (5-10 ml)
Shipping conditions: Ambient temperature by express mail. Protect from heat or cold. Sample has to reach the lab within 24 hours after sampling. Try to announce the sample by phone (+49 6221 56 8276).
Fibroblasts or skin biopsy: Please ask for 
prescription before sampling
Shipping conditions: Ambient temperature by express mail. Protect from heat or cold. Sample has to reach the lab within 24 hours after sampling.
Lysosomal diagnostics (screening of urine)
Indication: Suspicion of mucopolysaccharidoses, some oligosaccharidoses, sphingolipidoses
Material: Morning urine (10 ml) or 24-h collected urine (20 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions:Ambient temperature when preserved, otherwise on dry ice
Molecular genetic analyses
Indication: Only after abnormal results in CDG analysis
Material: EDTA full blood (5-10 ml) of patient and both parents. Add signed informed consent form.
Shipping conditions: Ambient temperature.
5-MTHF
Indication: Suspicion of disorders of folate metabolism or transport (encephalopathy, seizures, movement disorders).
Material: CSF
Preparation: Freeze immediately at -70 °C
Shipping conditions: Dry ice
Neurotransmitter basic analyses (biogenic amines, 5-MHTF, pterines, amino acids)
Indication: Epileptic encephalopathy refractory to standard medication, dystonic movement disorders or or other severe encaphalopathic symptoms.
Material: Always CSF and EDTA plasma (please ask for prescription before sampling; mark fractions clearly) (request form)
Preparation: Spin EDTA blood immediately. Deep freeze supernatant and CSF immediately (-70 °C); spin CSF in case of blood staining and freeze CSF supernatant.
Shipping conditions: Dry ice
Organic acids
Indication: Suspicion of organic aciduria, hypoglycaemia, unexplained coma, suspicion of neurometabolic disorders.
Material: Urine (5-10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Orotic acid
Indication: Suspicion of urea cycle disorder (e.g. heterozygous OTC deficiency in females); optionally after allopurinol loading
Material: Urine (5-10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Peroxisomal diagnostics (VLCFA, phytanic and pristanic acid)
Indication: Multisystem disease, hepatopathy, suspicion of peroxisomal dysfunction
Material: EDTA-Plasma or serum (1 ml)
Preparation: spin and ship supernatant only; send EDTA full blood when plasmalogens shall also be determined;
Shipping conditions: Plasma: cooled/frozen; Full blood: Ambient temperature by express mail. Protect from heat or cold. Sample has to reach the lab within 24 hours after sampling.
Plasmalogens
Indication: Suspicion of Rhizomelic chondrodysplasia punctata and variants of or peroxisome biogenesis disorder.
Material: EDTA full blood (2 ml)
Shipping conditions: Ambient temperature by express mail. Protect from heat or cold. Sample has to reach the lab within 24 hours after sampling.
Pterin diagnostics and DHPR activity
Indication: Hyperphenylalaninaemia, after patholgical results of neurotransmitter analysis
Material:
1. Dried blood (filter paper card, sufficient for pterine and DHPR activity after positive NBS)
2. Urine (only after abormal result in DBS or neurotransmitter analysis, please ask for prescription)
Preparation:
1. Dry blood 2 hours at ambient temperature; do not expose to humid heat
2. Protect urine from light and freeze immediately at -70 °C.
Shipping conditions: DBS at ambient temperature, urine on dry ice
Purines / pyrimidines
Indication: Renal and/or neurologic symptoms (mental retardation, seizures, autism, self mutilating behaviour), muscular hypotonia, arthritis, failure to thrive, immunodeficiency, anemia, hyperuricemia Material: Urine (10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Serotonin
Indication: after patholgical results of neurotransmitter analysis
Material: EDTA full blood, add 6 mg ascorbic acid; please ask for prescription before sampling
Preparation: freeze immediately (-70 °C)
Shipping conditions: Dry ice
Succinylacetone in dried blood
Indication: Suspicion of Tyrosinaemia type 1
Material: Dried blood (filter paper card)
Preparation: Dry for 2 hours at ambient temperature. Avoid exposure to humid heat.
Shipping conditions: Ambient temperature
Sulfocysteine
Indication: Suspicion of sulphite oxidase deficiency or molybdenum cofactor deficiency
Material: Urine (10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice
Trimethylamine
Indication: Suspicion of fish odor syndrome
Material: Urine (10 ml), please ask for prescription before sampling
Preparation: Acidify with 4 drops of 4 N hyperchloric acid
Shipping conditions: Ambient temperature or cooled
Vanillyl lactic acid
Indication: After patholgical results of neurotransmitter analysis
Material: Urine (5-10 ml)
Preparation: Preserve with 4-6 drops of dichlormethane or freeze at – 20°C
Shipping conditions: Ambient temperature when preserved, otherwise on dry ice