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DMD/BMD - EXONS FOR MALES ONLY

Genetic
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Report in 192Hrs

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At Home

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No Fasting Required

Details

Genetic tests for Duchenne/Becker muscular dystrophy.

₹7,696₹10,994

30% OFF

DMD/BMD - EXONS FOR MALES ONLY

  • Why is it done?
    • This test detects mutations and deletions/duplications in the dystrophin (DMD) gene located on the X chromosome to diagnose Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in males
    • Ordered when males present with progressive muscle weakness, elevated creatine kinase (CK) levels, or positive family history of muscular dystrophy
    • Performed during early childhood when symptoms of muscle weakness first become apparent, typically between ages 2-5 years
    • Used to confirm clinical diagnosis and differentiate between DMD and BMD based on deletion location and reading frame
    • Provides genetic counseling information for carrier females in the family
  • Normal Range
    • Normal Result: No deletion, duplication, or pathogenic point mutation detected in the dystrophin gene exons analyzed
    • Abnormal Result: Presence of exon deletion(s), duplication(s), or point mutation in one or more exons of the DMD gene
    • Units: Qualitative (Present/Absent); Exon number location reported
    • Interpretation: In males, a single copy of the X chromosome means any mutation causes expression of the disease phenotype
  • Interpretation
    • Deletion Detected: Hemizygous deletion confirmed; reading frame analysis determines DMD vs BMD - out-of-frame deletions typically result in DMD (severe), while in-frame deletions result in BMD (milder)
    • Duplication Detected: Hemizygous duplication found; out-of-frame duplications cause DMD phenotype
    • Point Mutation Detected: Pathogenic mutation identified; severity depends on whether mutation creates premature stop codon or affects critical protein domains
    • No Mutation Detected: Approximately 5-15% of DMD cases involve promoter mutations or intronic changes; full gene sequencing may be needed
    • Factors Affecting Results: De novo mutations (70% of DMD cases are new mutations), low-level mosaicism in somatic cells, and technical limitations in detecting point mutations or small indels
  • Associated Organs
    • Primary Organ Systems: Skeletal muscles, cardiac muscle, and smooth muscle; also affects diaphragm and respiratory muscles
    • Duchenne Muscular Dystrophy (DMD): Severe progressive muscle weakness beginning in legs; wheelchair dependence by age 12; cardiac involvement with dilated cardiomyopathy; respiratory muscle weakness; cognitive impairment in 30% of cases; average lifespan 20-30 years
    • Becker Muscular Dystrophy (BMD): Milder and slower progression; symptoms typically onset between ages 8-20; some maintain ambulation into adulthood; similar cardiac and respiratory involvement but typically later onset
    • Complications: Cardiac arrhythmias, heart failure, respiratory failure requiring ventilatory support, joint contractures, scoliosis, osteoporosis, infection risk, and sudden cardiac death
  • Follow-up Tests
    • Confirmatory Testing: Full DMD gene sequencing if exon analysis negative; dystrophin protein analysis via Western blot or immunofluorescence to confirm protein absence/abnormality
    • Muscle Biopsy: Performed if genetic testing inconclusive; shows dystrophic changes and reduced/absent dystrophin protein
    • Creatine Kinase (CK) Level: Elevated 50-200 fold in DMD; serial measurements for disease monitoring
    • Cardiac Assessment: Electrocardiogram (ECG) and echocardiography at baseline, then every 1-2 years; cardiac MRI for advanced assessment
    • Pulmonary Function Tests: Baseline and annual testing to monitor respiratory muscle function
    • Genetic Counseling: Family members should undergo carrier testing; female carriers have X-linked inheritance pattern and can pass mutation to 50% of male offspring
    • Cognitive and Behavioral Assessment: Psychological testing if cognitive involvement suspected, particularly for mutations affecting dystrophin isoforms in brain
  • Fasting Required?
    • Fasting Requirement: No
    • Sample Collection: Blood sample via venipuncture (preferred) or buccal swab for saliva collection
    • Sample Handling: Samples collected in EDTA (lavender-top) tube; must be stored and transported per laboratory specifications, typically refrigerated
    • Patient Preparation: No special preparation needed; no medication restrictions
    • Timing: Testing can be performed at any time of day; results typically available in 2-4 weeks

How our test process works!

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