Genomic Unity® Comprehensive Ataxia Analysis
Use
The Genomic Unity® Comprehensive Ataxia Analysis is designed to identify genetic variants that cause ataxia with or without other symptoms. This comprehensive analysis uses a whole genome sequencing platform to detect clinically relevant variant types from a single sample, focusing on 55 ataxia-associated genes. It serves as a unified clinical report, replacing the need for multiple individual tests such as targeted gene panels, single gene analysis, and other methods previously employed for diagnosing ataxia-related conditions.
Special Instructions
Not provided.
Limitations
The Genomic Unity® Comprehensive Ataxia Analysis does not fully cover the ATXN7 gene, hence not all pathogenic variants for this gene may be detected. The false negative rate for short tandem repeat (STR) 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
