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DMD/BMD-79 EXONS DELETION/DUPLICATION ANALYSIS MLPA BLOOD

Genetic
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Report in 192Hrs

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Details

Genetic tests for Duchenne/Becker muscular dystrophy.

₹17,020₹24,314

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DMD/BMD-79 EXONS DELETION/DUPLICATION ANALYSIS MLPA BLOOD

  • Why is it done?
    • Detects deletions and duplications in exons 1-79 of the DMD (dystrophin) gene using Multiplex Ligation-dependent Probe Amplification (MLPA) technique
    • Confirms diagnosis of Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) in patients with clinical symptoms or elevated creatine kinase (CK) levels
    • Identifies carrier status in females with family history of DMD/BMD
    • Provides genetic information for family planning and genetic counseling
    • Performed when patients present with progressive muscle weakness, elevated serum CK, or dystrophic muscle pathology on biopsy
    • Typically ordered as early diagnostic test given high frequency of deletions/duplications accounting for 70% of DMD mutations
  • Normal Range
    • Normal Result: No deletions or duplications detected in the 79 exons analyzed; diploid copy number (2 copies) present for all probes
    • Results reported as: 'No pathogenic deletions or duplications detected' or 'Normal copy number pattern'
    • Abnormal Result: Deletion (copy number 0 or 1) or duplication (copy number 3 or higher) detected in one or more exons
    • Copy number measurement: Relative peak heights in electropherogram compared to control probes; loss of signal indicates deletion, increased signal indicates duplication
    • Heterozygous carrier in females: One normal allele and one deleted/duplicated allele detected
    • Normal for females: No deletions/duplications or heterozygous pattern; normal for males: diploid copy number for all exons
  • Interpretation
    • Deletion detected in males: Confirms DMD or BMD diagnosis; severity depends on whether deletion maintains reading frame (BMD - usually milder) or disrupts reading frame (DMD - severe)
    • Duplication detected in males: Results in DMD due to disrupted reading frame; typically causes progressive weakness similar to frameshift deletions
    • Heterozygous deletion/duplication in females: May show variable clinical presentation ranging from asymptomatic to manifesting carrier status with mild to moderate symptoms
    • Contiguous multi-exon deletions: More commonly detected (approximately 65% of all deletions); indicate larger genomic rearrangements
    • Single exon deletions/duplications: Less common but clinically significant; may represent recurrent mutation hotspots
    • De novo mutations: Occur without family history; represent new mutations in patient
    • Inherited mutations: Family screening may show same mutation in mother (carrier) or other relatives
    • Negative result with high clinical suspicion: May indicate point mutations, small indels, or regulatory mutations not detected by MLPA; sequence analysis recommended
    • Dosage quotient (DQ) calculation: Ratio of patient probe peak to control probe peak compared to expected value; DQ 0.3-0.7 suggests heterozygous status, <0.3 suggests homozygous deletion
  • Associated Organs
    • Primary organ: Skeletal muscles; progressive degeneration and weakness most prominent
    • Secondary involvement: Cardiac muscle; dilated cardiomyopathy common in DMD, leading to heart failure and arrhythmias
    • Secondary involvement: Respiratory muscles; progressive weakness leading to respiratory insufficiency and need for ventilatory support
    • Secondary involvement: Brain; subtle cognitive effects and learning difficulties in approximately 30% of DMD patients
    • Associated condition - Duchenne Muscular Dystrophy (DMD): Severe form; onset typically 3-5 years age; wheelchair dependence by early teens; shortened life expectancy
    • Associated condition - Becker Muscular Dystrophy (BMD): Milder form; onset typically 10-26 years; slower progression; may remain ambulatory into adulthood
    • Potential complications: Cardiac arrhythmias, congestive heart failure, respiratory failure, spinal deformities, contractures, and intellectual disability
    • Genetic inheritance: X-linked recessive; males predominantly affected; females as carriers or manifesting carriers
    • Life expectancy impact: Early-onset DMD typically results in death by late teens to early 20s; BMD has significantly better prognosis
  • Follow-up Tests
    • DMD gene sequencing (exon-by-exon or full gene sequencing): Recommended if MLPA is negative but clinical suspicion remains high; detects point mutations and small indels
    • Dystrophin protein analysis (Western blot or immunohistochemistry): Evaluates presence and size of dystrophin protein; helps predict disease severity
    • Muscle biopsy with dystrophin staining: Confirms diagnosis histologically; shows muscle fiber degeneration and dystrophin localization pattern
    • Serum creatine kinase (CK) measurement: Markedly elevated in DMD/BMD; useful for monitoring disease progression and response to therapy
    • Electrocardiography (ECG): Assesses cardiac status; identifies arrhythmias and conduction abnormalities common in DMD
    • Echocardiography (ECHO): Evaluates cardiac function; detects dilated cardiomyopathy; baseline assessment and periodic monitoring essential
    • Pulmonary function testing (PFT): Assesses respiratory muscle function; tracks progression of respiratory compromise
    • Neuropsychological testing: Evaluate cognitive function if intellectual concerns present; baseline assessment for future comparison
    • Family genetic counseling and carrier testing: Female relatives tested to determine carrier status; important for reproductive planning
    • Periodic monitoring: Regular assessments every 6-12 months for disease progression, cardiac involvement, respiratory function, and complications
    • Biomarker testing (DUX4, MRI with edema analysis): Emerging tests for disease monitoring and tracking severity
  • Fasting Required?
    • Fasting requirement: NO
    • Food and drink: No fasting required; patient may eat and drink normally before blood collection
    • Medication: No specific medications need to be avoided; continue regular medications as prescribed
    • Sample collection: Blood specimen obtained via venipuncture into EDTA (purple-top) tube or equivalent
    • Sample volume: Typically 3-5 mL of whole blood required; verify with laboratory for specific requirements
    • Sample handling: Maintain at room temperature; do not freeze; transport to laboratory promptly (typically within 24-48 hours)
    • Patient preparation: No special preparation needed; routine venipuncture precautions apply
    • Timing: Test can be performed at any time of day; no time-of-day restrictions
    • Physical activity: No restrictions on physical activity prior to test; muscle activity does not affect DNA results
    • Turnaround time: Typically 2-4 weeks depending on laboratory; complex cases may require longer for detailed analysis and interpretation

How our test process works!

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