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Amino acids (CSF)

Category Biochemistry >> Metabolic
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.

Clinicial 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 & container 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
Notes

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.