D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic Test
Short Name: D2HGDH Gene NGS Test
Also known as: D2HGA1, D-2-hydroxyglutaric aciduria type 1
D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 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 mutations in the D2HGDH gene for accurate diagnosis of D-2-hydroxyglutaric aciduria type 1, aiding in clinical management and genetic counseling.
- Test Code
- 1958
- 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
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Blood Draw
Laboratory Analysis
Standard blood draw procedure under ambient room temperature conditions.
Report Delivery
Sample is securely packaged and sent for NGS analysis at the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the D2HGDH gene for accurate diagnosis of D-2-hydroxyglutaric aciduria type 1, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper sample labeling
- Use sterile collection tubes
- Follow instructions from the collection kit
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing rare metabolic disorders and informing genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive
Mutation detected in the D2HGDH gene, confirming diagnosis of D-2-hydroxyglutaric aciduria type 1. Consult a geneticist for management.
Negative
No pathogenic mutation detected, but symptoms persist. Consider additional tests or clinical correlation.
Variant of Uncertain Significance
Genetic variant identified; clinical significance unknown. Genetic counseling recommended.
If the individual exhibits symptoms of D2HGA1, or for family genetic counseling and prenatal planning.
Limitations
- ⚠May not detect all possible mutations
- ⚠Results require interpretation by a genetic counselor
Risks & Considerations
- ●Psychological impact of genetic results
- ●Potential for ambiguous findings requiring further testing
Interfering Factors
- ●Sample degradation
- ●Contamination
Frequently Asked Questions
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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