GIPC1 Repeat Expansion Testing
Description
Pathogenic GGC repeat expansions within the 5′ untranslated region of the GIPC1 gene have been associated with autosomal dominant oculopharyngodistal myopathy 2 (OPDM2).
Pathogenicity is dependent upon GGC repeat length according to the following ranges 1-2:
Normal Alleles | Mutable Normal Alleles | Intermediate/Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
12-32 | - | 33-60 | - | 61 or more |
Tests That Analyze GIPC1 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® Neuromuscular Disorders Analysis
- Genomic Unity® Neuropathies Analysis