Molecular Genetics Fabry Disease

The inherited cardiomyopathies comprise a group of genetically heterogeneous diseases, the most common of which are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular non-compaction (LVNC).  These disorders have an impact across all age groups.  Overall, the prevalence of these disorders is estimated at approximately 1/500 (0.2%). 

Fabry disease is caused by α-galactosidase (α-Gal A) deficiency and leads to progressive lysosomal deposition of globotriaosylceramides in cells throughout the body.  Characteristic features of Fabry disease include episodes of pain, clusters of small, dark red spots on the skin, sweating abnormalities, cloudiness of the front part of the eye, ringing in the ears, and hearing loss, progressive kidney damage, and left ventricular hypertrophic cardiomyopathy. The incidence of Fabry disease in males is estimated to be 1/50,000. This next-generation sequencing test is designed to detect mutations in the coding region of 1 gene associated with Fabry Disease.

 Reasons for Referral:

• Echocardiogram results suspicious for cardiomyopathy.
• Clinical presentation consistent with Fabry Disease.
• Positive family history for Fabry Disease (targeted testing is available if familial mutation is known).
• Carrier testing.

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated

Fabry Disease (1 gene): GLA

1. GeneReviews: Mehta et al., 2013, http://www.ncbi.nlm.nih.gov/books/NBK1292/
2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/fabry-disease