ATXN2 Repeat Expansion Testing
Description
Pathogenic CAG repeat expansions in the ATXN2 gene have been associated with autosomal dominant spinocerebellar ataxia 2 (SCA2).
Pathogenicity is dependent upon CAG repeat length according to the following ranges 1-4:
Normal Alleles | Mutable Normal Alleles | Intermediate or Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
29 or fewer | - | 30-32* | 33-34 | 35 or more |
*Repeats in this range may increase the risk for amyotrophic lateral sclerosis 5.
Tests That Analyze ATXN2 Repeats
- Genomic Unity® 2.0
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Lightning Genome Analysis – Pediatric
- 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®