MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test
Short Name: MMUT Gene NGS Test
Also known as: Methylmalonic acidemia, MMA due to MUT deficiency, MMUT deficiency test
MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (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 the MMUT Gene NGS Genetic Test is to identify mutations in the MMUT gene responsible for methylmalonic aciduria. This test aids in confirming diagnosis, guiding treatment decisions, enabling carrier testing for family members, and supporting prenatal counseling.
- Test Code
- 2170
- 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
- Next Generation Sequencing (NGS)
Sample Collection
Patient should provide detailed clinical history and undergo genetic counseling. A pedigree chart of family members may be drawn.
Method: Venipuncture
Laboratory Analysis
Blood sample is collected via venipuncture or a drop on FTA card. Ensure proper labeling.
Report Delivery
Apply pressure to the puncture site. Store sample as per instructions if not collected at facility.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MMUT Gene NGS Genetic Test is to identify mutations in the MMUT gene responsible for methylmalonic aciduria. This test aids in confirming diagnosis, guiding treatment decisions, enabling carrier testing for family members, and supporting prenatal counseling.
How to Prepare
- Fasting not required
- Collect blood in EDTA tube or use FTA card
- Label sample with patient details
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of MMUT gene mutations through NGS testing is vital for initiating dietary management and preventing severe complications in methylmalonic aciduria."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
No pathogenic variants detected
Negative result; clinical correlation recommended
Pathogenic variant(s) detected
Positive result; confirms diagnosis of methylmalonic aciduria due to MMUT deficiency
Variant of uncertain significance
Further testing or family studies may be required
If the test results are positive or if there is a family history of metabolic disorders, consult a geneticist or metabolic specialist for management and counseling.
Limitations
- ⚠May not detect all types of mutations such as large deletions
- ⚠Results require interpretation by a geneticist
- ⚠Does not rule out other metabolic disorders
Risks & Considerations
- ●No physical risks associated with blood draw
- ●Potential for psychological distress from results
- ●Risk of incidental findings
Interfering Factors
- ●DNA degradation
- ●Sample contamination
- ●Hemolysis in blood sample
Compare With Similar Tests
| Test | MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test | Urine Organic Acids Test | Plasma Amino Acids Test |
|---|---|---|---|
| Comparison | MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test |
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