Genomic Unity® Neuropathies Analysis
Use
Genomic Unity® Neuropathies Analysis is designed to identify genetic variants that cause neuropathy. It detects all major clinically relevant variant types from a single sample using a whole genome platform. This targeted test focuses on 103 genes associated with neuropathies and provides a unified clinical report that replaces multiple traditional tests such as targeted gene panels, single gene analyses, and MLPA. It is recommended when clinical symptoms are consistent with inherited neuropathy.
Special Instructions
Not provided.
Limitations
The IFN2 gene is not fully covered by this test, which may lead to undetected pathogenic variants. The false negative rate for repeat expansions has not been determined. Structural variant analysis has a clinical sensitivity of 96%.
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
