CNBP (Myotonic Dystrophy Type II) Repeat Expansion Testing
Description
Pathogenic CCTG repeat expansions in the CNBP gene have been associated with autosomal dominant myotonic dystrophy type 2 (DM2). The pathogenic repeat expansions lead to RNA toxicity.
Pathogenicity is dependent upon CCTG repeat length according to the following ranges 1-4:
Normal Alleles | Mutable Normal Alleles | Intermediate/Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
29 or fewer | 30-54 | 55-74 | - | 75 or more |
Tests That Analyze CNBP Repeats
- Genomic Unity® 2.0
- Genomic Unity® Lightning 2.0 Genome Analysis – NICU
- Genomic Unity® Lightning 2.0 Genome Analysis – Standard
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Exome Plus Analysis
- Genomic Unity® Exome Analysis
- Genomic Unity® Cardiomyopathy and Arrhythmia Analysis
- Genomic Unity® Neuromuscular Disorders Analysis
- Genomic Inform®