DMD/BMD Mutation Screening (26 Exons) Test
Short Name: DMD/BMD Mutation Screening
Also known as: DMD gene mutation analysis, Dystrophin gene screening, Muscular dystrophy genetic test
DMD/BMD Mutation Screening (26 Exons) Test test available at DNA Labs India for ₹7,500. Uses Multiplex End Point PCR on Peripheral blood samples. Results in Test results are typically available within 4-5 working days from sample collection. Reports will be delivered through email, WhatsApp, or our online patient portal. For urgent cases, expedited processing may be available upon request.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of DMD/BMD mutation screening is to identify pathogenic variants in the DMD gene that cause Duchenne or Becker muscular dystrophy. This test is essential for confirming a clinical diagnosis, determining the specific genetic mutation for prognostic purposes, and enabling carrier detection in at-risk family members. Genetic confirmation also facilitates prenatal diagnosis in future pregnancies and guides the selection of emerging targeted therapies, such as exon-skipping treatments that are mutation-specific. Additionally, this screening helps differentiate DMD/BMD from other neuromuscular disorders with similar clinical presentations, ensuring appropriate disease management and family counseling.
- Test Code
- 6092
- CPT Code
- 81408
- ICD Code
- G71.0
- Price
- ₹7,500
- Sample Type
- Peripheral blood
- Result Time
- Test results are typically available within 4-5 working days from sample collection. Reports will be delivered through email, WhatsApp, or our online patient portal. For urgent cases, expedited processing may be available upon request.
- Fasting Required
- No
- Method
- Multiplex End Point PCR
Sample Collection
No special preparation is required. A doctor's prescription is recommended. Inform your healthcare provider about any medications you are taking, as some may affect test results. For patients who have undergone bone marrow transplantation, please inform the laboratory as this may affect test accuracy.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected from a vein in your arm using a sterile needle. The procedure takes only a few minutes and may cause minor discomfort. For home collection, our trained phlebotomist will visit your location at a scheduled time.
Report Delivery
You can resume normal activities immediately after blood collection. Apply pressure to the puncture site for a few minutes to prevent bruising. Results will be available within 4-5 working days and will be communicated through your preferred mode of delivery.
Timeline: Test results are typically available within 4-5 working days from sample collection. Reports will be delivered through email, WhatsApp, or our online patient portal. For urgent cases, expedited processing may be available upon request.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of DMD/BMD mutation screening is to identify pathogenic variants in the DMD gene that cause Duchenne or Becker muscular dystrophy. This test is essential for confirming a clinical diagnosis, determining the specific genetic mutation for prognostic purposes, and enabling carrier detection in at-risk family members. Genetic confirmation also facilitates prenatal diagnosis in future pregnancies and guides the selection of emerging targeted therapies, such as exon-skipping treatments that are mutation-specific. Additionally, this screening helps differentiate DMD/BMD from other neuromuscular disorders with similar clinical presentations, ensuring appropriate disease management and family counseling.
How to Prepare
- Use EDTA vacutainer for blood collection
- Ensure proper labeling of the sample with patient identification
- Maintain sample at ambient temperature during transport
- Avoid hemolysis of the sample
- Complete all required requisition forms accurately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of DMD/BMD is crucial for initiating appropriate management and family planning. This comprehensive 26-exon screening provides a definitive molecular diagnosis, enabling timely intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Improperly labeled samples
- Samples received in wrong collection tubes
- Samples older than 72 hours without proper storage
- Incomplete requisition forms
Understanding Your Results
Positive for deletion/duplication
Confirms the diagnosis of DMD or BMD. The specific mutation pattern helps predict disease severity and guides treatment options.
Negative for deletion/duplication
No common mutations detected in the 26 exons tested. Further testing may be needed if clinical suspicion remains high.
Carrier status identified
Indicates carrier status in females, important for genetic counseling and family planning decisions.
Consult a neurologist or geneticist if you or your child experience symptoms such as progressive muscle weakness, difficulty walking, frequent falls, or delayed motor development. Early consultation is crucial for timely diagnosis and management. Also seek medical advice if you have a family history of DMD/BMD and are planning a family.
Limitations
- ⚠This test detects only deletions and duplications in the 26 exons analyzed; point mutations and mutations in other exons may not be identified
- ⚠Negative results do not completely rule out DMD/BMD, as mutations in untested regions or complex rearrangements may exist
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Genetic counseling is recommended to fully understand the implications of test results
Risks & Considerations
- ●Minimal risk of bruising at the puncture site
- ●Rare possibility of infection at the collection site
- ●Slight discomfort during blood collection
- ●Psychological impact of receiving genetic test results
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Sample degradation due to improper storage or transport
- ●Bone marrow transplantation in the patient, which may lead to mixed DNA profiles
- ●Rare polymorphisms that may complicate interpretation
- ●Mutations outside the 26 exons tested, which would not be detected
Compare With Similar Tests
| Test | DMD/BMD Mutation Screening (26 Exons) | DMD/BMD Mutation Screening (26 Exons) | DMD Gene Full Sequencing | MLPA (Multiplex Ligation-dependent Probe Amplification) |
|---|---|---|---|---|
| Comparison | DMD/BMD Mutation Screening (26 Exons) |
Frequently Asked Questions
What is the cost of DMD/BMD mutation screening at DNA Labs India?
What is the difference between DMD and BMD?
How is the DMD/BMD mutation screening test performed?
Do I need a doctor's prescription for this test?
Is home sample collection available for this test?
What does the test detect?
How long does it take to get the results?
What is the sample requirement for this test?
Can this test detect all types of DMD mutations?
Is genetic counseling included in the test price?
What are the symptoms of DMD/BMD that warrant testing?
Is this test covered by insurance?
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