PPP2R2B (Spinocerebellar Ataxia 12) Repeat Expansion Testing
Description
Pathogenic CAG repeat expansions within the 5′ untranslated region of the PPP2R2B gene have been associated with autosomal dominant spinocerebellar ataxia 12 (SCA12).
Pathogenicity is dependent upon CAG repeat length according to the following ranges 1-3:
Normal Alleles | Mutable Normal Alleles | Intermediate/Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
7-32 | - | 33-39 | 40-50* | 51 or more |
*The exact pathogenic repeat range is not well defined. Rare cases of SCA12 phenotype in patients with a repeat expansion in this range have been described 1-2.
Tests That Analyze PPP2R2B 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®