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Metabolic Center… Metabolic… Analyses and…

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 Initiates file downloadprescription 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

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