Genomic Unity® DMD Analysis
Use
Genomic Unity® DMD Analysis is a diagnostic test designed to identify genetic variants that cause Duchenne and Becker muscular dystrophies. This test uses a whole genome platform to detect all major clinically relevant variant types from a single sample and focuses on the DMD gene. It provides a unified clinical report that replaces a battery of tests including single gene analysis and multiplex ligation-dependent probe amplification (MLPA).
Special Instructions
Not provided.
Limitations
The platform has limitations in detecting certain types of variants with clinical sensitivity for structural variants reported as 96%. Known limitations must be considered in the context of negative results.
Methodology
NGS (WGS)
Biomarkers
DMD
Gene
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to blood specimen requirements on the website.
