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Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test

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Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test

Short Name: Nx Gen DMD/BMD Sequencing

Also known as: DMD Gene Sequencing Test, Dystrophin Gene Analysis, Nx Gen DMD/BMD Test

Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test test available at DNA Labs India for ₹23,400. Uses Next-Generation Sequencing (NGS), Sanger Sequencing on Whole blood samples. Results in Sample collected daily by 9 am; report delivered in 40 working days.. Free home collection in 300+ cities across India.

Genetic Sequencing TestMale and FemalePediatric to Adult🏠 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 identify pathogenic mutations in the DMD gene for accurate diagnosis of Duchenne and Becker Muscular Dystrophy, facilitating early management, genetic counseling, and family planning.

Test Code
1338
Price
₹23,400
Sample Type
Whole blood
Result Time
Sample collected daily by 9 am; report delivered in 40 working days.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing
Step 1

Sample Collection

Patient or guardian must provide informed consent by filling the Whole Exome Sequencing Consent Form (Form 37). Genetic counseling is recommended prior to testing to discuss implications, risks, and benefits.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture into two Lavender Top (EDTA) tubes, ensuring proper labeling and handling to avoid contamination.

Step 3

Report Delivery

Sample must be shipped refrigerated (not frozen) to the laboratory. Ensure the consent form is included and sample stability is maintained as per guidelines.

Timeline: Sample collected daily by 9 am; report delivered in 40 working days.

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the test purpose, process, and implications. Ensure consent form is completed and sample collection instructions are followed.
2
During the Test:Blood sample is analyzed in the laboratory using Next-Generation Sequencing (NGS) and confirmed with Sanger sequencing for variant validation.
3
After the Test:Results are reviewed by a geneticist and physician. Reports include mutation details and interpretation. Follow-up counseling is provided.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the DMD gene for accurate diagnosis of Duchenne and Becker Muscular Dystrophy, facilitating early management, genetic counseling, and family planning.

How to Prepare

  • Obtain and complete the Whole Exome Sequencing Consent Form (Form 37)
  • Collect 10 mL of whole blood in 2 Lavender Top (EDTA) tubes
  • Label samples accurately with patient details
  • Ship at refrigerated temperature (2-8°C); do not freeze
  • Include the signed consent form with the sample shipment

Doctor's Notes

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

"This test is crucial for early diagnosis and family planning, especially in families with a history of muscular dystrophy or when carrier status is suspected in females."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator (2-8°C): 72 hours
Frozen: Not applicable (NA)
Sample Rejection Criteria:
  • Sample volume less than 5 mL
  • Missing or incomplete consent form (Form 37)
  • Sample stored at frozen temperature
  • Hemolyzed or contaminated sample
  • Improper labeling or packaging

Understanding Your Results

Results from the Nx Gen Sequencing test indicate the presence or absence of pathogenic mutations in the DMD gene. Interpretation should be done by a qualified geneticist or healthcare provider in conjunction with clinical findings.
📊

Pathogenic variant detected

Confirms diagnosis of Duchenne or Becker Muscular Dystrophy based on mutation type. Genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

DMD/BMD is less likely, but other causes should be considered. May require additional testing if clinical suspicion remains high.

📊

Variant of uncertain significance (VUS)

Further analysis, family studies, or follow-up testing needed. Genetic counseling advised to discuss implications.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic specialist if you or a family member experience symptoms such as progressive muscle weakness, difficulty walking, frequent falls, or have a known family history of muscular dystrophy.

Limitations

  • ⚠May not detect all types of DMD gene mutations, such as deep intronic variants
  • ⚠Requires genetic counseling for accurate interpretation of results
  • ⚠Does not assess for other genetic disorders unless specified
  • ⚠Results are based on current scientific knowledge and may be reclassified with new research

Risks & Considerations

  • ●Psychological impact of test results on patient and family
  • ●Risk of incidental or uncertain findings requiring further investigation
  • ●Privacy concerns with genetic data handling
  • ●Potential for false negatives due to technical limitations

Interfering Factors

  • ●Poor blood sample quality or hemolysis
  • ●Contamination during sample collection or transport
  • ●Incomplete or missing consent form (Form 37)
  • ●Improper storage temperature (e.g., freezing)

Compare With Similar Tests

TestNx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
ComparisonNx Gen Sequencing: Duchenne & Becker Muscular Dystrophy TestDetects large deletions/duplications but not point mutations; often used as a first-line test before sequencing.Invasive procedure that assesses dystrophin protein levels; used when genetic testing is inconclusive.Blood test indicating muscle damage but not specific to DMD/BMD; used for screening.

Frequently Asked Questions

What is the Nx Gen Sequencing test for Duchenne and Becker Muscular Dystrophy?
It is a genetic test using next-generation sequencing to identify mutations in the DMD gene that cause Duchenne and Becker Muscular Dystrophy, enabling accurate diagnosis.
How is the test performed?
A blood sample is collected in EDTA tubes, shipped refrigerated to the lab, and analyzed using NGS and Sanger sequencing to detect DMD gene mutations.
What is the cost of the test?
The cost is INR 23400, which includes testing, genetic counseling, and support services. Home collection is available for free across India.
Is home sample collection available?
Yes, free home collection is offered in numerous cities across India for online bookings. Ensure the consent form is filled and sample instructions are followed.
What symptoms indicate the need for this test?
Symptoms include difficulty walking, frequent falls, proximal muscle weakness, elevated creatine kinase levels, or a family history of muscular dystrophy.
How long does it take to get results?
Results are typically available within 40 working days from sample collection, with reports delivered online, via email, or WhatsApp.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the DMD gene, indicating Duchenne or Becker Muscular Dystrophy. Genetic counseling is recommended for next steps.
What if no mutation is detected?
If no pathogenic variant is found, DMD/BMD is less likely, but further evaluation may be needed if symptoms persist. Consult a healthcare provider for additional testing.
How accurate is the test?
The test is highly accurate using advanced sequencing technology, but accuracy depends on sample quality and mutation type. It is validated for clinical use.
Do I need genetic counseling?
Yes, genetic counseling is recommended before and after testing to understand implications, results, and management options for the patient and family.
Is the test covered by insurance?
Coverage varies by insurance plan. Check with your provider for details. The test is not typically covered under government schemes like PMJAY or CGHS without specific approval.
How do I prepare for the test?
No fasting is required, but ensure the Whole Exome Sequencing Consent Form (Form 37) is filled. Follow sample collection instructions, such as avoiding freezing and shipping refrigerated.
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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