2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Use
Differentiates the 3 subtypes of 2‑hydroxyglutaric aciduria—D‑2, L‑2, and combined D,L‑2‑HGA—by quantitative analysis of D‑ and L‑enantiomers in urine to aid in diagnosis of these metabolic disorders.
Special Instructions
Age and sex of patient required; Biochemical Genetics Patient Information (T602) recommended; if ordering not electronic, use Biochemical Genetics Test Request (T798).
Limitations
Routine organic acids screen cannot distinguish enantiomers; this specialized biochemical test is required for differentiation. No significant cautionary statements provided.
New York Approved
Methodology
Mass Spectrometry (GC‑MS (implicitly LC‑MS/MS variant but text says gas chromatography mass spectrometry))
Biomarkers
LOINC Codes
- 79297-8
- 79303-4
- 80100-1
- 80099-5
- 18771-6
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
10 mL
Minimum Volume
1 mL
Container
Plastic, 10‑mL urine tube
Collection Instructions
Collect a random urine specimen (first morning void preferred); no preservative.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 14 days |
| Frozen | 416 days |