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
Requires genomic DNA from the submitted specimen. Deletion/duplication analysis is performed by exon-level oligo array CGH (ExonArrayDx) with ~250 bp resolution; copy number changes are confirmed via MLPA, qPCR, or repeat CGH. Sequence variants identified by NGS are confirmed when needed by Sanger sequencing or other appropriate methods. Suitable for individuals with suspected dystrophinopathy or familial variants.
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