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POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test

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POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test

Short Name: POMT2 MDDGA2 NGS Test

Also known as: POMT2 Gene Sequencing, POMT2 MDDGA2 Genetic Test, Congenital Muscular Dystrophy Type A2 NGS Test

POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 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 of blood on FTA card samples. Results in 3 to 4 weeks (21-30 days) from receipt of sample at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the POMT2 gene to confirm the diagnosis of muscular dystrophy-dystroglycanopathy type A2, assist in reproductive planning, and guide clinical management.

Test Code
4360
Price
₹20,000
Sample Type
Blood or extracted DNA or one drop of blood on FTA card
Result Time
3 to 4 weeks (21-30 days) from receipt of sample at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended to draw a pedigree and discuss the implications of genetic testing. No other specific preparation is required.

Method: Peripheral blood draw / FTA card spot / DNA collection kit

Step 2

Laboratory Analysis

A blood sample is collected in an EDTA vacutainer. Alternatively, a few drops of blood are applied to an FTA card.

Step 3

Report Delivery

No special care is needed. You can return to normal activities immediately.

Timeline: 3 to 4 weeks (21-30 days) from receipt of sample at the laboratory.

Patient Instructions

1
Before the Test:Discuss with a doctor about the need for genetic testing and understand the implications.
2
During the Test:For blood collection, a phlebotomist will draw a small amount of blood. For FTA, a drop of blood is placed on a card.
3
After the Test:Your report will be ready in 3-4 weeks. You may require genetic counseling to interpret your results.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the POMT2 gene to confirm the diagnosis of muscular dystrophy-dystroglycanopathy type A2, assist in reproductive planning, and guide clinical management.

How to Prepare

  • No fasting required
  • Bring relevant medical records and family history
  • Avoid mixing blood with other samples

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS test is a valuable tool for confirming the clinical diagnosis of POMT2-related dystroglycanopathy. It helps in accurate genetic counseling and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or extracted DNA or one drop of blood on FTA card
Sample Volume5 mL blood; 1 drop blood on FTA card; 1-2 µg extracted DNA
ContainerEDTA vacutainer / FTA card / DNA storage tube
Collection MethodPeripheral blood draw / FTA card spot / DNA collection kit

Sample Stability

Blood: 24 hours at room temperature
Blood: 72 hours at 2-8°C
FTA card: stable for months at room temperature
Extracted DNA: stable for several weeks at -20°C
Sample Rejection Criteria:
  • Hemolyzed specimen
  • Clotted sample
  • Mislabeled sample
  • Insufficient quantity
  • Sample degraded

Understanding Your Results

Results should be interpreted in the context of clinical findings and family history by a genetics professional.
📊

Disease-causing mutation; confirms diagnosis when biallelic

📊

Likely disease-causing; further analysis may be needed

📊

Clinical significance unclear; requires correlation with symptoms and family history

📊

No clinical impact

⚠️ When to Consult a Doctor:

If you have symptoms like muscle weakness, developmental delay, intellectual disability, or eye abnormalities, or a family history of POMT2-related muscular dystrophy, consult a neurologist or medical geneticist.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic mutations, or trinucleotide repeat expansions
  • ⚠Variants of uncertain significance may be reported; additional testing may be required
  • ⚠This test is not a substitute for clinical evaluation and counseling

Risks & Considerations

  • ●Minimal risks associated with blood draw: bruising, bleeding, infection, or vasovagal reaction

Interfering Factors

  • ●Sample contamination
  • ●Insufficient DNA quantity
  • ●Technical artifacts in sequencing

Frequently Asked Questions

What is the cost of the POMT2 gene NGS genetic test?
The test costs INR 20,000 at DNA Labs India.
What sample is needed for the POMT2 gene test?
Blood in an EDTA tube, extracted DNA, or a single spot of blood on an FTA card.
Is fasting required before this test?
No, fasting is not required for POMT2 gene NGS genetic testing.
How long does the report take?
Reports are delivered within 3 to 4 weeks from sample receipt.
What does the POMT2 gene NGS test look for?
It looks for mutations in the POMT2 gene that cause muscular dystrophy-dystroglycanopathy type A2.
Can this test detect carriers?
Yes, the test can identify carriers of a single POMT2 mutation. Carrier testing is recommended for at-risk family members.
Do I receive my raw data files?
Yes, DNA Labs India is one of the few labs that provide raw data (FASTQ, VCF) along with the clinical report.
What are the symptoms of POMT2-related MDDGA2?
Symptoms include severe muscle weakness, developmental delay, intellectual disability, seizures, and eye abnormalities.
Is home sample collection available?
Yes, we provide free home sample collection for this test in over 200 cities across India.
Are there any risks from the test?
The test itself is non-invasive; a standard blood draw has minimal risks like slight pain or bruising.
Who should get this genetic test?
It is recommended for individuals with suspected congenital muscular dystrophy with brain/eye anomalies and for families with a known POMT2 mutation.
Does the test include genetic counseling?
Yes, a genetic counseling session is part of the test procedure to draw a pedigree and discuss the results.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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