MMAB Gene Methylmalonic aciduria CblB type NGS Genetic Test
Short Name: MMAB Gene NGS Test
Also known as: CblB deficiency, Methylmalonic aciduria type CblB, MMAB gene disorder
MMAB Gene Methylmalonic aciduria CblB type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), DNA Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 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 diagnose methylmalonic aciduria CblB type by identifying pathogenic mutations in the MMAB gene using next-generation sequencing.
- Test Code
- 2168
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), DNA Sequencing
Sample Collection
No special preparation required. Provide clinical history and family pedigree.
Method: Blood draw or Cheek swab
Laboratory Analysis
Blood sample drawn from vein or cheek swab collected.
Report Delivery
Apply pressure to puncture site; no specific restrictions.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose methylmalonic aciduria CblB type by identifying pathogenic mutations in the MMAB gene using next-generation sequencing.
How to Prepare
- Use sterile collection tubes
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS testing for MMAB gene mutations is essential for early diagnosis and management of methylmalonic aciduria CblB type, helping in genetic counseling and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Inadequate sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of methylmalonic aciduria CblB type. Genetic counseling recommended.
No pathogenic variant detected
MMAB gene mutations not found. Consider other causes if symptoms persist.
If symptoms of methylmalonic aciduria are present or if there is a family history of the condition, consult a geneticist or metabolic specialist.
Limitations
- ⚠Cannot predict disease severity or progression
- ⚠May not detect all types of mutations, such as large deletions
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Insufficient sample volume
Frequently Asked Questions
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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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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