MMAA Gene Methylmalonic aciduria CblA type NGS Genetic Test
Short Name: MMAA Gene Test
Also known as: CblA type MMA, MMAA Deficiency, Methylmalonic acidemia CblA type
MMAA Gene Methylmalonic aciduria CblA type 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the MMAA gene responsible for CblA type methylmalonic aciduria. It aids in confirming diagnosis, determining carrier status, facilitating genetic counselling, and informing treatment decisions for patients with suspected or confirmed MMA.
- Test Code
- 2165
- 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, including family pedigree, and undergo a genetic counselling session to discuss the test implications and obtain informed consent.
Method: Venipuncture or Finger prick
Laboratory Analysis
A blood sample is collected by a trained phlebotomist using sterile techniques, either via venipuncture or finger prick for one-drop blood on FTA card.
Report Delivery
The sample is properly labeled, stored at ambient room temperature, and transported to the laboratory under controlled conditions to ensure stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the MMAA gene responsible for CblA type methylmalonic aciduria. It aids in confirming diagnosis, determining carrier status, facilitating genetic counselling, and informing treatment decisions for patients with suspected or confirmed MMA.
How to Prepare
- Use sterile vacutainer tubes or FTA cards for sample collection
- Label the sample with patient details accurately
- Avoid hemolysis by gentle mixing and proper handling
- Store blood samples at room temperature if not extracted DNA
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for MMAA mutations can guide treatment and management for patients with methylmalonic aciduria, especially in families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Insufficient sample volume
- Incorrect or missing patient labeling
- Sample older than 48 hours for blood
Understanding Your Results
Normal (No pathogenic variants)
No mutations detected in the MMAA gene. Clinical symptoms may be due to other causes; further testing recommended.
Abnormal (Pathogenic or Likely Pathogenic variant)
Mutation(s) detected consistent with CblA type MMA. This confirms genetic diagnosis and supports management planning.
Variant of Uncertain Significance
A variant with unknown clinical significance. Genetic counselling and additional family studies may be needed for clarification.
Consult a healthcare professional if the test results are positive, if symptoms persist despite negative results, or if there is a family history of methylmalonic aciduria. Genetic counselling is recommended for all patients and families.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Does not rule out other causes of methylmalonic aciduria
- ⚠Interpretation requires correlation with clinical symptoms and family history
- ⚠Variants of uncertain significance may require further investigation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, soreness, or infection at the puncture site
- ●No significant health risks associated with the genetic test itself
- ●Psychological impact of results may require support and counselling
Interfering Factors
- ●Sample contamination during collection or handling
- ●Degraded DNA due to improper storage or transport
- ●Previous blood transfusions affecting DNA quality
- ●Presence of inhibitors in the sample
Compare With Similar Tests
| Test | MMAA Gene Methylmalonic aciduria CblA type NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | MMAA Gene Methylmalonic aciduria CblA type NGS Genetic Test |
Frequently Asked Questions
What is the MMAA Gene Test?
Who should consider taking this test?
What are the symptoms of CblA type MMA?
How is the test performed?
What is the cost of the MMAA Gene Test?
Is home sample collection available for this test?
How long does it take to get results?
What do the results mean?
Is the test covered by insurance?
Can this test detect all mutations causing MMA?
What is the difference between CblA and other types of MMA?
How accurate is NGS testing for this condition?
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