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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test

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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test

Short Name: POMGNT1 LGMD Type C3 NGS

Also known as: POMGNT1 gene NGS test, Limb-girdle muscular dystrophy-dystroglycanopathy type C3 genetic test, MDDGC3 gene test

POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 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 generally issued within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

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 pathogenic variants in the POMGNT1 gene that cause muscular dystrophy-dystroglycanopathy (limb-girdle), type C3. It helps confirm a clinical diagnosis, guide genetic counseling, and provide information about recurrence risk in affected families.

Test Code
4370
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks from the date the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Clinical history of the patient should be provided, and a genetic counseling session may be arranged to draw a pedigree chart of family members affected with this condition.

Method: Blood draw or FTA card spotting

Step 2

Laboratory Analysis

A small blood sample will be collected by a trained phlebotomist, or a few drops of blood can be spotted on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample will be transported to the laboratory for NGS analysis, and results are expected within 3 to 4 weeks.

Timeline: Reports are generally issued within 3 to 4 weeks from the date the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. The patient should provide clinical history, and a genetic counseling session may be arranged to draw a pedigree chart of family members affected with this condition.
2
During the Test:A small blood sample will be collected, or a few drops of blood will be placed on an FTA card. The procedure is quick and minimally invasive.
3
After the Test:There are no restrictions after sample collection. The sample is sent to the laboratory, and results are expected within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the POMGNT1 gene that cause muscular dystrophy-dystroglycanopathy (limb-girdle), type C3. It helps confirm a clinical diagnosis, guide genetic counseling, and provide information about recurrence risk in affected families.

How to Prepare

  • No special preparation is needed before sample collection.
  • Please carry any previous medical reports, prescriptions, and family history details.
  • A genetic counseling session may be recommended before testing.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"I refer patients with suspected hereditary neuromuscular disease for targeted NGS testing when a specific gene like POMGNT1 is clinically suspected. A confirmed genetic diagnosis supports recurrence risk counselling and management planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerNot specified
Collection MethodBlood draw or FTA card spotting

Sample Stability

Blood sample: Usually stable for 72 hours at 2-8°C.
FTA card: Stable at room temperature for several weeks.
Extracted DNA: Stable at -20°C or below for long-term storage.
Sample Rejection Criteria:
  • Improperly labeled sample
  • Hemolyzed or clotted blood sample
  • Insufficient quantity of extracted DNA
  • Sample leakage or broken container

Understanding Your Results

The clinical report will describe whether a pathogenic or likely pathogenic variant was identified in the POMGNT1 gene and whether further testing or family studies are required. All results should be interpreted by a clinical geneticist or neurologist in the context of symptoms and family history.
📊

Positive / Pathogenic variant detected

A disease-causing variant in POMGNT1 was identified. Clinical correlation and genetic counseling are recommended.

📊

Negative / No pathogenic variant detected

No disease-causing variant was found in the POMGNT1 gene. This does not rule out a genetic cause in another gene.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is not fully known. Additional family studies or functional analysis may be needed.

⚠️ When to Consult a Doctor:

If you or a family member have progressive proximal muscle weakness, frequent falls, difficulty climbing stairs, difficulty rising from a chair, or a family history of muscular dystrophy, consult a neurologist or clinical geneticist.

Limitations

  • ⚠This targeted NGS test only analyzes the POMGNT1 gene and does not rule out variants in other muscular dystrophy genes.
  • ⚠Standard NGS may not detect large deletions, duplications, deep intronic variants, or repeat expansions.
  • ⚠Variants of uncertain significance may be reported and require additional family or functional studies.
  • ⚠Results should always be interpreted by a qualified clinical geneticist in the context of clinical findings and family history.

Risks & Considerations

  • ●Minimal risk of bruising, pain, or infection at the venipuncture site.
  • ●Psychological impact of learning genetic results.
  • ●Possibility of identifying a variant of uncertain significance requiring further testing.

Interfering Factors

  • ●Poor quality or degraded DNA may reduce test success.
  • ●Contamination during sample collection can affect results.
  • ●Very low DNA concentration may require repeat sampling.
  • ●Allogeneic bone marrow transplant may confound germline genetic testing.

Compare With Similar Tests

TestPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test
ComparisonPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test

Frequently Asked Questions

What is the price of the POMGNT1 NGS genetic test at DNA Labs India?
The test costs INR 20,000. It includes NGS analysis of the POMGNT1 gene, clinical interpretation, and raw data files such as FASTQ and VCF. Free home sample collection is offered for online bookings.
What sample is needed for this genetic test?
The acceptable samples are whole blood, extracted DNA, or one drop of blood spotted on an FTA card.
What is POMGNT1-related muscular dystrophy-dystroglycanopathy type C3?
It is a rare inherited condition caused by mutations in the POMGNT1 gene. It affects muscles around the hips, shoulders, and upper arms, and leads to progressive muscle weakness and wasting.
What are the common symptoms?
Symptoms include progressive weakness in the hip, shoulder, and upper arm muscles, difficulty walking or climbing stairs, frequent falls, loss of muscle mass, and difficulty lifting objects.
How is the diagnosis confirmed?
Diagnosis is usually made by clinical evaluation, imaging studies like MRI, and genetic testing using NGS to identify pathogenic variants in the POMGNT1 gene.
Is fasting required for this test?
No, fasting is not required for POMGNT1 NGS genetic testing.
How long does it take to get the report?
Reports are generally ready in 3 to 4 weeks from the time the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings of this test across many cities in India.
Will I receive raw data files with the report?
Yes, DNA Labs India shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test.
Who should consider this test?
This test is recommended for individuals with clinical features of limb-girdle muscular dystrophy-dystroglycanopathy, those with a family history of this condition, or those requiring carrier or presymptomatic testing after genetic counseling.
Can NGS test detect other muscular dystrophy genes?
This specific test targets the POMGNT1 gene. DNA Labs India also offers multi-gene NGS panels for other muscular dystrophy genes if broader testing is clinically required.
How should the test results be interpreted?
Results should be interpreted by a clinical geneticist or neurologist, along with clinical symptoms, family history, and additional genetic counseling when needed.
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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