Genomic Unity® Muscular Dystrophy Analysis
Use
Genomic Unity® Muscular Dystrophy Analysis is a diagnostic test designed to identify genetic variants that cause muscular dystrophies. It provides comprehensive genetic analysis by targeting 52 genes associated with muscular dystrophies. The test replaces multiple traditional tests, consolidating gene panel, single gene analysis, and MLPA into one unified test. This approach is crucial for patients exhibiting symptoms consistent with congenital muscular dystrophies, allowing for more precise diagnosis and personalized patient management.
Special Instructions
Not provided.
Limitations
Certain regions within the TTN gene are non-unique, which may hinder the ability to assign some variants to the correct location, thus limiting interpretation in these areas. Test may not detect all variants due to these complexities and genome architecture.
Methodology
NGS (WGS)
Biomarkers
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 the blood specimen requirements link for details.