Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

Casandra

Casandra Test Code LC84351Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 700200CPT Code 82136

Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

Clinical Use

Order Test

Use

Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).

Special Instructions

For plasma and cerebrospinal fluid collected more than 20 minutes, order Amino Acid Profile, Quantitative, Plasma (700068) or Amino Acid Profile, Quantitative, Cerebrospinal Fluid (700180). To discuss amino acid testing options, please call 1-800-345-GENE and ask to speak to a Biochemical Geneticist.

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

Result Codes

20644-1
22650-6
73913-6
49303-1
72486-4
49549-9

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.