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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic Test

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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic Test

Short Name: POMGNT1 NGS Test

Also known as: POMGNT1-related muscular dystrophy-dystroglycanopathy, MDDGB3, Congenital muscular dystrophy with mental retardation type B3

POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 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 delivered in 3 to 4 Weeks from the date the sample is received 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

This test is ordered when there is clinical suspicion of congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3. It helps confirm the diagnosis by identifying pathogenic variants in the POMGNT1 gene, supports genetic counselling, and enables accurate recurrence-risk assessment for families.

Test Code
4365
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 Weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is recommended to document clinical history and family pedigree before the test.

Method: Venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

For a blood sample, a small volume is collected by a trained phlebotomist. For an FTA card, a finger-prick blood spot is applied to the card and allowed to dry.

Step 3

Report Delivery

No restrictions are needed after sample collection. The sample is transported to the laboratory for NGS analysis.

Timeline: Reports are delivered in 3 to 4 Weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. A pre-test genetic counselling session is recommended to review clinical history and family pedigree.
2
During the Test:A blood sample will be collected by a trained phlebotomist; if using FTA card, a finger-prick blood spot is collected.
3
After the Test:No aftercare is needed. The sample is processed and sequencing data is analysed.

About This Test

Who Should Get This Test

This test is ordered when there is clinical suspicion of congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3. It helps confirm the diagnosis by identifying pathogenic variants in the POMGNT1 gene, supports genetic counselling, and enables accurate recurrence-risk assessment for families.

How to Prepare

  • EDTA blood samples should be collected in the provided vacutainer.
  • FTA card samples should be air-dried and placed in the provided envelope.
  • Clearly label the sample with the patient name, date of birth and collection date.
  • Ship the sample to the laboratory as per DNA Labs India instructions.

Doctor's Notes

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

"Patients with suspected congenital muscular dystrophy should receive genetic counselling to understand inheritance, recurrence risk, and available management options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for test
ContainerEDTA tube / FTA card
Collection MethodVenipuncture or FTA card spot collection

Sample Stability

Whole blood (EDTA)
FTA card (dried blood spot)
Extracted DNA
Sample Rejection Criteria:
  • Improperly labelled sample
  • Clotted or hemolysed blood sample
  • Insufficient sample quantity
  • Highly degraded DNA
  • Container damaged during transport

Understanding Your Results

The result should be interpreted by a clinical geneticist in the context of the patient's clinical presentation and family history. A positive finding supports the molecular diagnosis; a negative finding does not exclude all genetic causes.
Pathogenic or likely pathogenic variant detected in POMGNT1: consistent with muscular dystrophy-dystroglycanopathy type B3.
Variant of uncertain significance (VUS): additional familial segregation or functional studies may be required.
No pathogenic variant detected: does not rule out a POMGNT1-related disorder if sequencing coverage was incomplete; consider alternative genetic causes.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist after the result to understand the diagnosis, inheritance, surveillance, and family planning implications.

Risks & Considerations

  • ●Minimal risk from blood draw: slight pain, bruising or rarely infection
  • ●FTA card finger-prick collection is safe and non-invasive
  • ●No significant long-term risks associated with the test

Interfering Factors

  • ●Low DNA quantity or quality
  • ●Maternal cell contamination in prenatal samples
  • ●Sample mix-up or improper labelling
  • ●Incomplete clinical history

Compare With Similar Tests

TestPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic TestPOMGNT1 Single-Gene NGSCongenital Muscular Dystrophy NGS Panel
ComparisonPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic Test

Frequently Asked Questions

What is the POMGNT1 NGS genetic test?
It is a targeted next-generation sequencing test that analyses the POMGNT1 gene to detect disease-causing variants associated with congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3.
Who should undergo this test?
Individuals with muscle weakness, developmental delay, intellectual disability, seizures, brain anomalies, eye abnormalities, or family history of MDDG type B3 may be advised by a geneticist or neurologist.
Do I need to fast for this test?
No. This is a genetic test; no fasting or special dietary preparation is required.
What sample is required?
Blood anticoagulated with EDTA, extracted DNA, or one drop of blood spotted on an FTA card can be used.
How long will results take?
Reports are generally issued in 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of this test?
The test price is Rs 20,000 at DNA Labs India, and home sample collection is provided for online bookings.
Does insurance cover this test?
This test is usually not covered under standard insurance. You are advised to confirm with your insurer and available government schemes.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in the POMGNT1 gene was identified, supporting the clinical diagnosis. Your genetic specialist will explain the implications.
What does a negative result mean?
A negative result means no disease-causing variant was found in POMGNT1 by this NGS test. However, it does not completely exclude other genetic causes or certain non-coding variants.
Can this test distinguish between MDDG type B3 and other muscular dystrophies?
Single-gene testing for POMGNT1 supports a type B3 diagnosis. A comprehensive NGS muscle dystrophy panel can assess additional genes if the clinical features are broad.
Is genetic counselling required?
Yes. Genetic counselling and a pedigree chart are part of the pre-test process to ensure informed consent and appropriate interpretation.
Are there any risks from the test?
There are minimal risks from a blood draw, such as slight pain, bruising, or rarely infection; FTA card collection is safe and non-invasive.
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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