POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 NGS Genetic Test
Short Name: POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Type B2 NGS Genetic Test
Also known as: POMT2 Muscular Dystrophy-Dystroglycanopathy Type B2, Congenital Muscular Dystrophy with Mental Retardation Type B2
POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 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 this NGS genetic test is to detect mutations in the POMT2 gene that cause muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2. It aids in diagnosis, carrier testing, and family planning.
- Test Code
- 4362
- 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
No special preparation required. A genetic counselling session is recommended before testing.
Method: Blood Draw / FTA Card Spot
Laboratory Analysis
Blood is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card.
Report Delivery
No special care required. The sample is sent to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the POMT2 gene that cause muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2. It aids in diagnosis, carrier testing, and family planning.
How to Prepare
- Blood sample should be collected in an EDTA vacutainer
- For FTA card, blood should be spotted onto the card and air-dried
- Ensure sample is labeled with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for POMT2 mutations is crucial for accurate diagnosis and family planning. Early detection can significantly improve clinical management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled sample
- Clotted or hemolyzed blood
- Insufficient sample volume
- Sample not stored correctly
Understanding Your Results
Negative
No pathogenic variant identified in the POMT2 gene.
Positive
A pathogenic variant detected; diagnosis confirmed.
Variant of Uncertain Significance (VUS)
A variant was identified but its clinical significance is unclear; further testing may be recommended.
If you have symptoms suggestive of muscular dystrophy or a family history of POMT2-related conditions, consult a neurologist or geneticist.
Limitations
- ⚠May not detect all types of mutations, such as deep intronic variants or large deletions.
- ⚠Variants of uncertain significance may be reported.
- ⚠Genetic counselling is recommended for result interpretation.
Risks & Considerations
- ●Mild discomfort during blood draw
- ●Bruising at the puncture site
- ●Very low risk of infection
Interfering Factors
- ●Poor DNA quality
- ●Sample contamination
- ●Incomplete clinical information
Frequently Asked Questions
What is the cost of the POMT2 gene NGS genetic test?
What is this test used for?
What sample is needed?
How long does it take to get results?
Do I need to fast before the test?
Is home sample collection available?
What does the report include?
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What is NGS technology?
Can this test be used for carrier testing?
Is genetic counselling recommended?
Where is this test available?
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₹20,000Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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