Genomic Unity® Ataxia Repeat Expansion Analysis
Use
The Genomic Unity® Ataxia Repeat Expansion Analysis is a diagnostic test designed to identify repeat expansion variants that cause ataxia, with or without additional symptoms, by detecting all major clinically relevant variant types from a single sample using a whole genome platform. It simplifies the diagnostic process by replacing multiple testing methods such as targeted gene panel, single gene analysis, PCR, and other tests with a unified clinical report. This test is particularly beneficial for individuals exhibiting clinical symptoms consistent with an ataxia disorder.
Special Instructions
Not provided.
Limitations
The Genomic Unity® Ataxia Repeat Expansion Analysis may not detect all pathogenic variants, particularly because the ATXN7 gene is not fully covered by this test. Additionally, the false negative rate for repeat expansions has not been determined.
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 specimen requirements on the Variantyx website for specific instructions.
