2-Hydroxyglutaric Aciduria Gene Panel, Varies
Use
The 2-Hydroxyglutaric Aciduria Gene Panel is used for follow-up of abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria. It supports establishing a molecular diagnosis for patients with this condition and identifying genetic variants within known associated genes. This enables predictive testing for at-risk family members. The panel differentiates between the D and L forms of 2-hydroxyglutaric acid which are associated with various cerebral organic acidurias, aiding in targeted diagnosis and management.
Special Instructions
Due to the complexity of prenatal specimens, consultation with the laboratory is required. Maternal blood samples must accompany all prenatal specimens to ensure accurate results. Variants detected are classified and reported with interpretive comments. Informed consent is required for New York clients.
Limitations
This test may not detect all genomic variants due to depth of coverage variability, homogeneity, GC-content, and repetitive sequences in some target regions. False-negative or false-positive results might occur. NGS is not designed to detect structural rearrangements like translocations and inversions. In some cases, single exon resolution may not be achieved due to genomic complexity. Potential issues with results arising from an allogeneic hematopoietic stem cell transplant or bone marrow transplant must be considered.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 105341-2
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in the original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |