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POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test

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POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test

Short Name: POMT1 LGMD2N NGS Test

Also known as: POMT1 Gene Sequencing, LGMD2N Genetic Test, POMT1 Mutation Analysis (NGS)

POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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 test is to identify disease-causing variants in the POMT1 gene that are associated with autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N). This test provides a definitive molecular diagnosis and assists in early management, genetic counseling, and reproductive planning.

Test Code
4210
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card Blood Spot
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please carry any previous medical records, MRI/EMG reports, muscle biopsy reports, and family history details. Pre-test genetic counseling is provided.

Method: Venipuncture / Blood spot on FTA card / DNA extraction

Step 2

Laboratory Analysis

A trained phlebotomist will collect a venous blood sample. If using FTA card, a drop of blood will be placed on the card and dried.

Step 3

Report Delivery

You can return to routine activities immediately. There are no dietary restrictions. The report will be shared online and via email/WhatsApp in 3-4 weeks.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Pre-test genetic counseling and pedigree analysis will be performed. No fasting is required. Bring relevant medical records.
2
During the Test:The collected sample is processed for DNA extraction, library preparation, and next-generation sequencing of the POMT1 gene.
3
After the Test:Post-test genetic counseling is recommended to discuss the results and their implications. The report will be shared online and via email/WhatsApp in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the POMT1 gene that are associated with autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N). This test provides a definitive molecular diagnosis and assists in early management, genetic counseling, and reproductive planning.

How to Prepare

  • No special preparation required.
  • Fasting is not required.
  • Inform us if you have had a blood transfusion or bone marrow transplant.

Doctor's Notes

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

"Patients with suggestive LGMD symptoms and elevated creatine kinase should undergo genetic testing after careful clinical evaluation. A definitive molecular diagnosis in POMT1 is essential for accurate genetic counseling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card Blood Spot
Sample Volume5 ml blood or 1 FTA card spot or 1 μg extracted DNA
ContainerEDTA vacutainer / Sterile tube / FTA card
Collection MethodVenipuncture / Blood spot on FTA card / DNA extraction

Sample Stability

Whole blood (EDTA): 48 hours at room temperature, 7 days at 2-8°C
Extracted DNA: up to 4 weeks at -20°C
FTA card blood spot: stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect anticoagulant (e.g., heparin)
  • Insufficient blood volume or DNA quantity
  • Improper labeling or sample leakage
  • FTA card not dried properly

Understanding Your Results

Interpretation is based on the ACMG/AMP variant classification guidelines. The report will classify variants as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign.
Pathogenic / Likely Pathogenic: Indicates a disease-causing variant; confirms the diagnosis of LGMD2N when the clinical phenotype matches.
Variant of Uncertain Significance (VUS): Inconclusive; additional family segregation testing, functional studies, or RNA analysis may be recommended.
Benign / Likely Benign: No clinical significance; does not explain the patient's symptoms.
No mutation detected: Negative result; does not completely rule out LGMD if clinical suspicion remains, as other genes may be involved.
⚠️ When to Consult a Doctor:

If you have symptoms such as progressive muscle weakness in the hip and shoulder girdles, difficulty walking, climbing stairs, frequent falls, or elevated creatine kinase, consult a neurologist. If you have a family history of LGMD, discuss genetic testing with a clinical geneticist.

Limitations

  • ⚠NGS-based POMT1 sequencing may not detect large exon-level deletions/duplications unless MLPA or CNV analysis is specifically performed.
  • ⚠Variants of uncertain clinical significance (VUS) may be reported; segregation and functional studies are sometimes required.
  • ⚠Repeat expansions and deep intronic variants may not be detected by this NGS test.
  • ⚠Results should be interpreted by a clinical geneticist in the context of the patient's phenotype and family history.

Risks & Considerations

  • ●Minimal pain or bruising at the blood draw site
  • ●Lightheadedness or fainting during blood collection
  • ●Very rare risk of infection or bleeding

Interfering Factors

  • ●Prior allogeneic bone marrow transplant leading to mixed donor-recipient DNA
  • ●Insufficient DNA quantity or highly degraded DNA
  • ●Maternal cell contamination in cord blood samples
  • ●Sample mix-up or mislabeling

Frequently Asked Questions

What is LGMD2N?
LGMD2N is limb-girdle muscular dystrophy type 2N, a rare autosomal recessive inherited disorder caused by mutations in the POMT1 gene. It leads to progressive weakness and wasting of proximal muscles around the hips and shoulders.
Which gene is tested in this NGS test?
This NGS genetic test specifically analyzes the POMT1 gene, including the entire coding region and splice-site junctions, to identify disease-causing mutations associated with LGMD2N.
What type of samples can be used for this test?
You can provide a venous blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the POMT1 NGS test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does the POMT1 NGS genetic test take to complete?
The test typically takes 3 to 4 weeks (21-28 days) from the time the sample is received by the laboratory.
What is the cost of the POMT1 LGMD2N NGS test in India?
The cost at DNA Labs India is INR 20000. A special discounted price of INR 20000 is offered for online bookings, along with free home sample collection across India.
Will this test detect all types of limb-girdle muscular dystrophy?
No, this test only analyzes the POMT1 gene, which is associated with LGMD2N. Other types of LGMD involve different genes and are not covered by this test.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across multiple cities in India. The phlebotomist will visit your home to collect the sample.
Is genetic counseling included in the test?
Yes, pre-test genetic counseling and pedigree charting to record family history are included in the test service at DNA Labs India.
What does a 'variant of uncertain significance' result mean?
A variant of uncertain significance (VUS) means the laboratory identified a genetic change whose impact on health is not yet known. Further family studies or functional analysis may be needed to clarify its role.
Can this test confirm a diagnosis of LGMD2N?
Yes, if a pathogenic or likely pathogenic variant in the POMT1 gene is found in a patient with compatible clinical features, it confirms the diagnosis of LGMD2N.
Will insurance cover this genetic test?
Coverage depends on your insurance policy and the referral indication. DNA Labs India can provide a quotation and necessary documents to support the insurance claim.
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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