ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic Test
Short Name: ALDH6A1 Gene MMSDH Deficiency Test
Also known as: Methylmalonate semialdehyde dehydrogenase deficiency, ALDH6A1 deficiency
ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS 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
The purpose of this test is to diagnose ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency by identifying pathogenic mutations in the ALDH6A1 gene. It aids in confirming the disorder, guiding treatment decisions, and facilitating genetic counseling for family planning.
- Test Code
- 2157
- 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
Sample Collection
Ensure proper sample handling and storage. No specific patient preparation required.
Method: Standard blood collection
Laboratory Analysis
Collect blood via venipuncture or use extracted DNA. For FTA card, apply one drop of blood.
Report Delivery
Label sample correctly and transport to lab under recommended conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency by identifying pathogenic mutations in the ALDH6A1 gene. It aids in confirming the disorder, guiding treatment decisions, and facilitating genetic counseling for family planning.
How to Prepare
- Use sterile equipment
- Avoid hemolysis
- Store samples at 2-8°C if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of ALDH6A1 deficiency, especially in families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Incorrect sample type
- Insufficient sample volume
Understanding Your Results
Consult a geneticist or healthcare provider if symptoms suggestive of metabolic disorder are present, or for carrier testing and family planning.
Limitations
- ⚠May not detect all genetic variants
- ⚠Limited to ALDH6A1 gene analysis
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated sample
- ●Degraded DNA
- ●Insufficient sample volume
Frequently Asked Questions
What is ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency?
What are the symptoms of this deficiency?
How is this deficiency diagnosed?
What is the cost of the ALDH6A1 gene NGS test in India?
What sample type is required for this test?
Is fasting required for this test?
How long does it take to get results?
Is home sample collection available?
Can this test be covered by insurance?
What should I do if the test result is positive?
Are there any risks associated with this test?
What other tests are related to this condition?
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Reference Laboratory Services
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