Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

Clinical Use

Order Test

Use

Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).

Special Instructions

Not provided.

Limitations

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration. The test has specific specimen requirements; gross hemolysis, room temperature or thawed specimens, and specimens collected in ACD (yellow-top) tubes are causes for rejection. Plasma reference ranges will be applied to all specimen types.

Test Details

Methodology

Mass Spectrometry

Biomarkers

CSF:Plasma Ratio

Analyte

CSF:Plasma

Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

Glycine CSF

Analyte

Glycine CSF

Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

Glycine Plasma

Analyte

Glycine Plasma

Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)

LOINC Codes

Order Codes

73913-6 - Glycine CSF/Glycine plas

Result Codes

20644-1 - Glycine SerPl-sCnc
22650-6 - Glycine CSF-sCnc
73913-6 - Glycine CSF/Glycine plas
49303-1 - Amino acid Pat CSF-Imp
72486-4 - Lab director name Provider
49549-9 - Ref lab test method

Result Turnaround Time

3-5 days

Specimen

Plasma

Volume

0.5 mL

Minimum Volume

0.15 mL

Container

Preferred: Frozen plasma from green-top (sodium heparin) tube

Collection Instructions

Plasma and CSF should be simultaneously collected (venipuncture immediately prior to lumbar puncture). Separate plasma from cells. Transfer specimen to plastic transport tube before freezing.