ATXN8OS Repeat Expansion Testing
Description
Pathogenic repeat expansions in the ATXN8OS gene have been associated with susceptibility to autosomal dominant spinocerebellar ataxia 8 (SCA8). Pathogenic expansions of CTG/CAG within the ATXN8OS/ATXN8 gene lead to toxic RNA foci due to ATXN8OS CTG repeats and toxic polyglutamine tracts due to ATXN8 CAG repeats that form toxic aggregates.
Pathogenicity is dependent upon repeat length according to the following ranges 1-3:
Normal Alleles | Mutable Normal Alleles | Intermediate or Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
15-50 (CTA·TAG)n +(CTG·CAG)n | - | 51-53 (CTA·TAG)n +(CTG·CAG)n | 54 (CTA·TAG)n +(CTG·CAG)n | - |
Tests That Analyze ATXN8OS Repeats
- Genomic Unity® 2.0
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Lightning Genome Analysis – Standard
- Genomic Unity® Exome Plus Analysis
- Genomic Unity® Exome Analysis
- Genomic Unity® Movement Disorders Analysis
- Genomic Unity® Comprehensive Ataxia Analysis
- Genomic Unity® Ataxia Repeat Expansion Analysis
- Genomic Inform®