SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test
Short Name: SLC25A1 Gene NGS Test
Also known as: SLC25A1 Gene Mutation Test, Combined Hydroxyglutaric Aciduria Genetic Test
SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic mutations in the SLC25A1 gene for accurate diagnosis of combined D-2- and L-2-hydroxyglutaric aciduria, guiding clinical management and genetic counseling.
- Test Code
- 4657
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Obtain clinical history and provide genetic counseling to the patient and family. Ensure informed consent is signed.
Method: Venipuncture or FTA Card Collection
Laboratory Analysis
Collect blood sample via venipuncture or use FTA card for one drop of blood, following aseptic techniques.
Report Delivery
Label the sample correctly and transport to the laboratory under ambient room temperature conditions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the SLC25A1 gene for accurate diagnosis of combined D-2- and L-2-hydroxyglutaric aciduria, guiding clinical management and genetic counseling.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile collection tubes or FTA cards
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing is crucial for managing rare metabolic disorders like combined hydroxyglutaric aciduria, enabling timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of combined hydroxyglutaric aciduria; recommend clinical management and family screening.
No pathogenic variant detected
Condition unlikely based on genetic testing, but clinical correlation is advised if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed; genetic counseling recommended.
If the patient exhibits symptoms such as developmental delay, seizures, hypotonia, or neurological abnormalities, or if there is a family history of metabolic disorders.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires clinical correlation and genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample handling
Compare With Similar Tests
| Test | SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test | Whole Exome Sequencing | Targeted Gene Panel |
|---|---|---|---|
| Comparison | SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test |
Frequently Asked Questions
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