HOXA13 Repeat Expansion Testing

Description

Pathogenic variants in the HOXA13 gene, including polyalanine repeat expansions, have been associated with autosomal dominant hand-foot-genital syndrome.

Pathogenicity of GCN repeats in the first polyalanine tract is dependent upon length according to the following ranges ^1-2:

Pathogenicity of GCN repeats in the second polyalanine tract is dependent upon length according to the following ranges ^1-3:

Pathogenicity of GCN repeats in the third polyalanine tract is dependent upon length according to the following ranges ^1-3: