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DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic Test

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DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic Test

Short Name: DNAJB6 Gene LGMD1E NGS Test

Also known as: LGMD1E, DNAJB6-related muscular dystrophy

DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E 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 3 to 4 Weeks. 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

To diagnose DNAJB6 gene mutations causing limb-girdle muscular dystrophy type 1E, aiding in early management and family planning.

Test Code
1660
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation needed. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide detailed medical and family history.
2
During the Test:The test involves next-generation sequencing of the DNAJB6 gene from a blood sample.
3
After the Test:Discuss results with your healthcare provider. Genetic counseling is recommended.

About This Test

Who Should Get This Test

To diagnose DNAJB6 gene mutations causing limb-girdle muscular dystrophy type 1E, aiding in early management and family planning.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label sample correctly

Doctor's Notes

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

"Early genetic diagnosis is crucial for managing DNAJB6-related muscular dystrophy and providing family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated72 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the DNAJB6 gene associated with limb-girdle muscular dystrophy type 1E.
📊

Positive for pathogenic variant

Confirms diagnosis of DNAJB6-related LGMD

📊

Negative

No mutations detected, but symptoms may be due to other causes

📊

Variant of uncertain significance

Further testing and clinical correlation needed

⚠️ When to Consult a Doctor:

If you experience progressive muscle weakness, especially in hips and shoulders, or have a family history of muscular dystrophy.

Limitations

  • ⚠Only detects mutations in the DNAJB6 gene
  • ⚠May not identify all types of mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk

Interfering Factors

  • ●Contaminated DNA sample
  • ●Improper sample storage

Frequently Asked Questions

What is the DNAJB6 Gene Limb-girdle muscular dystrophy NGS test?
It is a genetic test that uses next-generation sequencing to detect mutations in the DNAJB6 gene, which causes autosomal dominant limb-girdle muscular dystrophy type 1E.
What are the symptoms of DNAJB6-related LGMD?
Symptoms include weakness in hip and shoulder muscles, difficulty walking or climbing stairs, muscle pain, stiffness, and fatigue, typically starting in early adulthood.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the DNAJB6 gene for mutations.
What is the cost of the test?
The cost is INR 20,000 in India, which may vary by location. Home sample collection is available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the DNAJB6 gene, confirming diagnosis of DNAJB6-related LGMD.
Can the test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require specific consultation and additional methods.
Is the test covered by insurance?
Coverage depends on your insurance provider and scheme. It is advisable to check with them directly.
What is the accuracy of the test?
The test has high accuracy for detecting mutations in the DNAJB6 gene, but genetic counseling is recommended for interpretation.
Do I need genetic counseling before the test?
Yes, a genetic counseling session is recommended to understand the implications and draw a family pedigree chart.
What should I do after receiving the test results?
Discuss the results with your healthcare provider and consider genetic counseling for family planning and management options.
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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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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