The CDCap™ Dystrophin Research Panel targets the DMD gene encoding dystrophin, covering an approximately 2.2 Mb genomic region to enable enrichment and comprehensive analysis of the full DMD gene sequence. Unlike traditional stepwise testing, full-length sequencing of the DMD gene precisely detects pathogenic deep-intronic variants, structural variations, and complex rearrangement events. This approach provides key technical support for elucidating molecular pathogenesis.
Precise Detection of Critical Variants
· Accurately identify pathogenic deep-intronic variants, structural variations, and complex rearrangement events.
Accurate CNV Breakpoint Identification
· Enable precise detection of copy number variation (CNV) breakpoints.
Superior Hybridization Capture Performance
· Leverage the CD genomic hybridization capture system for uniform, high-efficiency target enrichment.
| Enrichment Method: | Probe Hybridization Capture |
| Species: | Human |
| Variant Types: | SNV、SV、Complex Rearrangements |
| Target Size: | 2.2M |
| Sample Type: | blood、swab etc. |
| Method: | NGS |
| Sequencing Platform: | Illumina |
| Storage: | Store at -20 °C. |
1. Basic Quality Control Performance on Dual Platforms
2. Capture Performance on DMD gDNA Reference Standards
3. Precise Detection of CNV Breakpoints
4. DMD Genomic Coverage
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