LRP12 Repeat Expansion Testing

Description

Pathogenic CGG repeat expansions in the LRP12 gene have been associated with autosomal dominant oculopharyngodistal myopathy 1 (OPDM1).

Pathogenicity is dependent upon CGG repeat length according to the following ranges 1-3:

Normal Alleles

Mutable Normal Alleles

Intermediate/Uncertain Alleles

Reduced Penetrance Alleles

Full Penetrance Alleles

2-49

-

-

50-75*

76 or more

*Alleles with 50-100 repeats are typically associated with peripheral neuropathy and amyotropic lateral sclerosis 2.

Tests That Analyze LRP12 Repeats