DMD Gene Muscular dystrophy, Duchenne type NGS Genetic Test
Short Name: DMD NGS
Also known as: DMD NGS Genetic Test, Dystrophin Gene NGS Test, Duchenne Muscular Dystrophy NGS Panel, DMD Gene Next-Generation Sequencing Test
DMD Gene Muscular dystrophy, Duchenne type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this DMD gene NGS genetic test is to identify disease-causing sequence variants in the DMD gene in individuals with suspected Duchenne muscular dystrophy. It also provides important information for carrier testing, reproductive planning and recurrence risk counseling in affected families.
- Test Code
- 4358
- ICD Code
- G71.0
- 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
- NGS Technology
Sample Collection
No fasting is required. A genetic counseling session to draw a pedigree chart of affected family members is recommended. Please bring previous clinical reports, neurological evaluation details, CK reports and any relevant family records.
Method: Venous blood collection or dried blood spot on FTA card
Laboratory Analysis
A small blood sample will be collected by a trained phlebotomist. Alternatively, a dried blood spot on FTA card may be prepared from a finger-prick. The procedure is quick and generally painless.
Report Delivery
You can resume normal activities immediately. The sample will be transferred to the laboratory and the final report will be delivered in 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this DMD gene NGS genetic test is to identify disease-causing sequence variants in the DMD gene in individuals with suspected Duchenne muscular dystrophy. It also provides important information for carrier testing, reproductive planning and recurrence risk counseling in affected families.
How to Prepare
- Correctly identify the patient before sample collection
- Use an EDTA tube for whole blood collection
- For FTA card, apply one drop of blood to the marked area
- Label the sample with patient name, unique ID and collection date
- Complete the clinical history form and consent for genetic testing
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"For a child with muscle weakness, elevated CK or a family history of Duchenne muscular dystrophy, early genetic confirmation is essential. In affected families, carrier testing of at-risk females and recurrence risk counselling should follow the diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Incorrect sample tube or improper labelling
- Insufficient sample quantity
- Incomplete requisition form or missing consent
Understanding Your Results
No pathogenic variant detected
Negative result. It does not exclude a genetic cause; additional testing may be considered if clinical suspicion remains high.
Pathogenic or likely pathogenic variant detected
Positive result. It supports the diagnosis of DMD and allows cascade testing in family members.
Variant of uncertain significance (VUS)
Unclear result. Further family studies and clinical correlation are required before clinical action.
Consult a pediatrician, child neurologist or clinical geneticist if your child has early signs such as difficulty walking, frequent falls, trouble climbing stairs, enlarged calf muscles, speech delay or elevated CK levels. Genetic counseling is recommended before and after this test.
Limitations
- ⚠NGS may not detect all large deletions, duplications or complex rearrangements; additional testing such as MLPA may be needed.
- ⚠A negative result does not completely exclude a diagnosis of muscular dystrophy.
- ⚠Variants of uncertain significance may require further family studies and clinical correlation.
- ⚠This test should be interpreted in the context of clinical findings and family pedigree.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site
- ●Anxiety or psychological impact related to genetic findings
- ●No significant physical risks from the genetic test itself
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination or sample mix-up
- ●Very large structural rearrangements that may require additional testing
- ●Clinical history without a genetic basis
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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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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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