Duchenne/Becker MD (DMD) Gene Sequencing and/or Deletion/Duplication Analysis
Use
This test is intended to detect pathogenic sequence variants (e.g. SNVs, indels) and exon-level deletions/duplications of the DMD gene, which account for the majority of dystrophinopathy-related variants linked to Duchenne and Becker muscular dystrophies. It supports comprehensive molecular diagnosis by combining NGS-based sequencing with exon-level array CGH and copy number confirmation methods, aiding clinicians and families in establishing a genetic basis for DMD/BMD, carrier status, or recurrence risk assessment.
Special Instructions
Not provided.
Limitations
Normal findings do not rule out a dystrophinopathy since certain variant classes (e.g., mosaic, deeper intronic, balanced rearrangements, indels >10 bp not reliably detected by sequencing, and deletions/duplications <250 bp) may escape detection. The sequencing component may miss variants in low-coverage or refractory regions; copy number assessment cannot detect balanced rearrangements or mosaicism reliably. Sensitivity is approximately 98% for sequencing and exon-level deletions/duplications.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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