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DMD test (Duchenne / Becker Muscular Dystrophy)-DMD/BMD (18 Exons) for Males Only
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Genetic tests for Duchenne/Becker muscular dystrophy.
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DMD Test (Duchenne / Becker Muscular Dystrophy)-DMD/BMD (18 Exons) for Males Only
- Why is it done?
- Detects mutations in the DMD gene responsible for Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD), two X-linked recessive genetic disorders affecting skeletal muscle function
- Diagnoses males presenting with progressive muscle weakness, elevated creatine kinase (CK) levels, or clinical symptoms suggestive of muscular dystrophy
- Identifies specific exon deletions or duplications in 18 analyzed exons of the DMD gene, which account for approximately 65-70% of all DMD/BMD mutations
- Performed in male infants, children, or adolescents with family history of muscular dystrophy or symptoms of muscle degeneration
- Used for genetic counseling to determine carrier status in female relatives and assess recurrence risk in families
- Typically ordered when clinicians suspect muscular dystrophy based on clinical presentation, family history, or muscle biopsy findings
- Normal Range
- Normal Result: No deletion or duplication detected in the 18 analyzed exons of the DMD gene
- Interpretation: A negative result indicates that no exon deletions or duplications were found in the tested regions, which includes the most common mutation sites in the DMD gene
- Units: DNA sequence analysis; Results reported as either 'Deletion detected', 'Duplication detected', or 'No deletion or duplication detected'
- Normal vs Abnormal: Normal = No mutations in analyzed exons; Abnormal = Presence of exon deletion(s) or duplication(s)
- Limitation: This test analyzes only 18 exons; point mutations, small insertions, or mutations in other exons may not be detected
- Interpretation
- Exon Deletion Detected: Indicates loss of one or more exons; typically results in out-of-frame deletions (likely DMD) or in-frame deletions (likely BMD); severity depends on which exons are deleted and whether the reading frame is maintained
- Exon Duplication Detected: Indicates multiplication of one or more exons; similar to deletions, in-frame duplications typically result in milder BMD phenotype while out-of-frame duplications cause more severe DMD phenotype
- No Mutation Detected: Suggests either no DMD/BMD mutation present or mutation located outside the 18 tested exons; further testing (full gene sequencing, muscle biopsy) may be warranted if clinical suspicion remains high
- Reading Frame Analysis: Determines disease severity; out-of-frame mutations typically result in severe DMD with early symptom onset and rapid progression; in-frame mutations typically result in milder BMD with later symptom onset
- Factors Affecting Interpretation: Clinical presentation, family history, CK levels, muscle biopsy findings, and genetic counseling are essential for accurate interpretation
- Clinical Significance: Confirms diagnosis of DMD or BMD; allows differentiation between these phenotypically similar conditions; provides prognostic information regarding disease course and severity
- Associated Organs
- Primary Organ System: Skeletal muscle system; the DMD gene encodes dystrophin, a critical structural protein in muscle cell membranes
- Cardiac Muscle: DMD/BMD can affect the heart, leading to cardiomyopathy, arrhythmias, and heart failure; cardiac involvement occurs in nearly 100% of DMD patients
- Smooth Muscle: Gastrointestinal smooth muscle can be affected, resulting in constipation, difficulty swallowing, and gastrointestinal dysmotility
- Respiratory System: Weakness of respiratory muscles leads to breathing difficulties, sleep apnea, and eventual respiratory failure; major cause of morbidity and mortality in advanced DMD
- Central Nervous System: Cognitive impairment and behavioral issues occur in approximately 30% of DMD patients; dystrophin is expressed in brain tissue
- Associated Diseases: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, progressive muscle weakness and degeneration, muscle pain and cramping
- Potential Complications: Loss of ambulation (typically by age 12 in DMD), wheelchair dependence, respiratory failure, cardiac complications, contractures, scoliosis, pseudohypertrophy of muscles
- Risks: Progressive debilitation, reduced life expectancy (DMD patients typically die in second or third decade due to respiratory or cardiac complications), reduced quality of life
- Follow-up Tests
- Full DMD Gene Sequencing: Recommended if deletion/duplication test is negative but clinical suspicion remains high; detects point mutations, small insertions/deletions, and intronic mutations not identified by 18-exon panel
- Serum Creatine Kinase (CK): Measures muscle damage; dramatically elevated in DMD (often >10,000 IU/L); helpful for disease monitoring
- Muscle Biopsy with Immunohistochemistry: Assesses dystrophin protein presence and distribution in muscle fibers; helps confirm diagnosis and assess severity
- Electromyography (EMG): Evaluates muscle electrical activity; typically shows myopathic pattern consistent with muscular dystrophy
- Cardiac Assessment: Echocardiography and electrocardiography to monitor for cardiomyopathy and arrhythmias; should be performed at diagnosis and regularly monitored
- Pulmonary Function Testing: Assesses respiratory muscle strength and lung function; monitors for respiratory complications
- Genetic Counseling and Carrier Testing: Female relatives (mothers, sisters) should undergo carrier testing; helps identify affected individuals and assess familial recurrence risk
- Motor Function Assessment: Timed functional tests (e.g., 6-minute walk test, stair climbing) for disease progression monitoring
- Monitoring Frequency: At diagnosis and then annually or more frequently as disease progresses; cardiac and respiratory monitoring typically recommended every 6-12 months
- Fasting Required?
- Fasting Not Required: No, fasting is not necessary for this genetic test
- Sample Type: Blood sample (typically 2-5 mL of whole blood collected in EDTA tube) or buccal swab for DNA extraction
- Sample Timing: Can be collected at any time of day; timing relative to meals is irrelevant
- Medications: No medications need to be withheld or avoided prior to testing; genetic tests are not affected by medications
- Patient Preparation: No special preparation required; patient should be informed about the test purpose and potential implications of results
- Additional Considerations: Genetic counseling before and after testing is recommended to discuss implications of potential positive results, inheritance patterns, and family implications
How our test process works!
