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POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test

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POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test

Short Name: POMGNT2 NGS Test

Also known as: POMGNT2-related muscular dystrophy-dystroglycanopathy type A8, MDDGA8, Congenital muscular dystrophy type A8

POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 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 Reports are available in 3 to 4 weeks.. 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

The purpose of this test is to confirm or rule out a diagnosis of muscular dystrophy-dystroglycanopathy type A8 by identifying biallelic pathogenic variants in the POMGNT2 gene. It also helps to establish the genetic basis for family risk assessment and reproductive planning.

Test Code
4359
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available in 3 to 4 weeks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A valid referral and clinical history are needed. Genetic counselling session is recommended before the test.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

Blood is drawn by a trained phlebotomist. For FTA card, a single drop of blood is spotted on the card and dried.

Step 3

Report Delivery

No special precautions. Patients can resume normal activities.

Timeline: Reports are available in 3 to 4 weeks.

Patient Instructions

1
Before the Test:Consult a genetic counsellor to discuss the purpose, risks, and implications of the test.
2
During the Test:Sample collection takes about 10 minutes.
3
After the Test:Await reports; genetic counselling for result interpretation will be offered.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a diagnosis of muscular dystrophy-dystroglycanopathy type A8 by identifying biallelic pathogenic variants in the POMGNT2 gene. It also helps to establish the genetic basis for family risk assessment and reproductive planning.

How to Prepare

  • Use EDTA vacutainer for blood sample.
  • Do not freeze whole blood; store at 2-8°C until transport.
  • For FTA card, ensure the blood spot is completely dried before placing in the provided envelope.
  • Label the sample with patient name, date, and patient ID.

Doctor's Notes

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

"Genetic counselling before testing is essential to understand the inheritance pattern and implications for family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 5 µg DNA
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Whole blood at 2-8°C: 7 days
Extracted DNA at -20°C: 6 months
FTA card at room temperature: 1 year
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Improperly labeled sample
  • Sample received after prolonged transport without proper temperature
  • Insufficient sample volume

Understanding Your Results

This test provides molecular genetic information for clinical correlation. Results should be interpreted in the context of the patient's clinical presentation and family history.
Positive result: Identification of biallelic pathogenic/likely pathogenic variants in POMGNT2 gene confirms the diagnosis.
Carrier result: One pathogenic variant identified; individual is a carrier for autosomal recessive condition.
Negative result: No pathogenic variants identified; does not rule out other genetic etiologies.
Variant of uncertain significance (VUS): Additional testing and family segregation studies are recommended.
⚠️ When to Consult a Doctor:

If you notice muscle weakness, delayed motor milestones, or unexplained seizures with brain and eye anomalies in a child, consult a neurologist or clinical geneticist for evaluation and testing.

Limitations

  • ⚠NGS may not detect deep intronic variants or large structural rearrangements beyond the analytical scope.
  • ⚠Variants of uncertain significance may require additional testing/family studies.
  • ⚠Negative result does not exclude all genetic causes of muscular dystrophy; a broader panel may be needed.

Risks & Considerations

  • ●Minor bruising at blood collection site
  • ●Possible emotional distress from genetic results

Interfering Factors

  • ●Degraded DNA from improperly stored samples
  • ●Maternal cell contamination in prenatal samples

Frequently Asked Questions

What is POMGNT2 gene muscular dystrophy-dystroglycanopathy type A8?
It is a rare autosomal recessive disorder caused by mutations in the POMGNT2 gene, characterized by congenital muscular dystrophy with brain and eye anomalies.
What are the common symptoms of type A8?
Muscle weakness, delayed motor development, brain and eye abnormalities, intellectual disability, seizures, and respiratory problems.
How is POMGNT2-related muscular dystrophy diagnosed?
Diagnosis is based on clinical features, muscle biopsy, and confirmed by molecular genetic testing using NGS.
What does the NGS genetic test for POMGNT2 include?
The test sequences the POMGNT2 gene and detects single nucleotide variants, small insertions/deletions, and copy number variants.
What is the cost of the test at DNA Labs India?
The special discounted price is INR 20,000 across India, with free home sample collection.
What sample is required for the test?
Blood (2-3 ml) in an EDTA tube, extracted DNA, or a single drop of blood on an FTA card.
Is genetic counselling needed before the test?
Yes, a genetic counselling session is recommended to draw a pedigree and discuss implications of results.
How long does it take to get reports?
Reports are typically delivered in 3 to 4 weeks from sample receipt.
Does DNA Labs India share raw data files?
Yes, DNA Labs India is transparent and shares raw data files (FASTQ and VCF) along with the clinical report.
What is the inheritance pattern of this disorder?
POMGNT2 muscular dystrophy-dystroglycanopathy type A8 is inherited in an autosomal recessive pattern.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What should I do if the test result is positive?
Consult a clinical geneticist for further counselling, management options, and family planning advice.
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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