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Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

DNA Labs India | ISO 9001:2015 Certified

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

Short Name: DMD/BMD Gene Mutation Test

Also known as: Duchenne Muscular Dystrophy Test, Becker Muscular Dystrophy Test, Dystrophin Gene Test, DMD/BMD Genetic Test

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test test available at DNA Labs India for ₹14,000. Uses MLPA on Blood samples. Results in Results are typically available within 3 weeks after sample collection.. Free home collection in 300+ cities across India.

MLPA TestMaleAll 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 test is to identify mutations in the dystrophin gene that cause Duchenne or Becker Muscular Dystrophy, enabling early diagnosis, carrier detection, informed family planning, and guidance for symptom management and treatment strategies.

Test Code
504
Price
₹14,000
Sample Type
Blood
Result Time
Results are typically available within 3 weeks after sample collection.
Fasting Required
No
Method
MLPA
Step 1

Sample Collection

Ensure a duly filled Genomics Clinical Information Requisition Form (Form 20) is available. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist. Inform the collector of any bleeding disorders or medications.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities. Store sample as per stability guidelines.

Timeline: Results are typically available within 3 weeks after sample collection.

Patient Instructions

1
Before the Test:No specific preparation required. Ensure all forms are completed.
2
During the Test:A blood sample is drawn from a vein in the arm. The process takes a few minutes.
3
After the Test:Minimal risks; slight bruising possible. Await results as per turnaround time.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the dystrophin gene that cause Duchenne or Becker Muscular Dystrophy, enabling early diagnosis, carrier detection, informed family planning, and guidance for symptom management and treatment strategies.

How to Prepare

  • Complete Form 20 prior to collection
  • Avoid strenuous activity before sample draw
  • Ensure proper labeling of the sample tube

Doctor's Notes

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

"Early genetic testing for DMD/BMD is crucial for family planning, carrier detection, and proactive management to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Refrigerate at 2-8°C for up to 72 hours
Room temperature: Not stable
Frozen: Not applicable
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled or unlabeled tube
  • Sample older than 72 hours without refrigeration
  • Hemolyzed or contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the dystrophin gene. Interpretation should be done by a genetic counselor or healthcare provider.
Negative result: No deletion/duplication detected; clinical correlation advised
Positive result: Mutation detected; confirms diagnosis of DMD or BMD
Inconclusive result: Further testing recommended
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of muscle weakness are present, for genetic counseling upon positive results, or to discuss family planning options.

Limitations

  • ⚠May not detect point mutations or small variants
  • ⚠Limited to deletions/duplications detected by MLPA
  • ⚠Cannot predict disease severity precisely
  • ⚠Carrier detection may require additional testing

Risks & Considerations

  • ●Minimal pain or bruising at puncture site
  • ●Rare risk of infection or dizziness
  • ●No significant long-term risks

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample handling
  • ●Recent blood transfusion

Compare With Similar Tests

TestDuchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
ComparisonDuchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

Frequently Asked Questions

What is the DMD/BMD Gene Mutation Test?
It is a genetic test that detects deletions or duplications in the dystrophin gene to diagnose Duchenne or Becker Muscular Dystrophy.
Who should get this test?
Individuals with symptoms like progressive muscle weakness, family history of muscular dystrophy, or elevated CK levels.
How is the test performed?
A blood sample is collected and analyzed using MLPA to identify gene mutations.
What does a positive result mean?
A positive result confirms a mutation in the dystrophin gene, indicating DMD or BMD.
Is the test painful?
The blood draw may cause slight discomfort, but it is generally well-tolerated.
How long does it take to get results?
Results are typically available within 3 weeks after sample collection.
Is the test covered by insurance?
Coverage varies by policy; check with your insurance provider for details.
Can this test detect carriers?
Yes, it can identify deletions/duplications in females who may be carriers.
What are the risks of the test?
Risks are minimal, including possible bruising at the blood draw site.
How should I prepare for the test?
No special preparation is needed; ensure all required forms are completed.
What is the cost of the test?
The test costs INR 14000 at DNA Labs India, with free home collection.
Where can I get this test done?
DNA Labs India offers this test with home collection across multiple cities in India.
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

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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