Imperial Collage Healthcare

Amino acids (CSF)

Test Background
CSF:plasma ratio is the preferred investigation for defects of glycine cleavage or serine deficiency. A sample for plasma amino acid analysis should be collected at the same time as the CSF.

Clinical Indications
Severe encephalopathy of neonatal onset or neurological disorder with congenital microcephaly and epilepsy.

Reference Range
Reference ranges will be given with the report.

Sample Required
CSF in universal container and a heparin (green top) for plasma amino acids

Sample Volume
0.5 mL

Turnaround Time

Up to 3 weeks

Valproate treatment can cause a mildly elevated CSF:plasma glycine ratio

Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.

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