Icahn School of Medicine at Mount Sinai
Mount Sinai - Twitter Mount Sinai - YouTube Mount Sinai - Facebook

Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Fabry Disease

Fabry Disease

Test Description:
Fabry disease is an X-linked condition caused by a deficiency of alpha-galactosidase A enzyme activity. Affected individuals are unable to degrade globotriaosylceramide (GL-3) in their lysosomes. The progressive accumulation of GL-3 results in symptoms that include characteristic skin rashes (angiokeratomas), decreased sweating (hypohidrosis), chronic fatigue, depression, neuropathic pain in the hands and feet (acroparesthesia), gastrointestinal issues, strokes, cardiac disease (including left ventricular hypertrophy), and renal disease (proteinuria to end stage renal disease). Fabry disease affects both men (hemizygotes) and women (heterozygotes), but testing strategy varies based on gender. Alpha galactosidase A enzyme analysis alone should detect all affected males and may also detect ~60% of heterozygote females affected by Fabry disease. In order to increase the detection of females with Fabry disease, combined enzyme analysis with sequencing of the alpha galactosidase A gene is recommended. DNA analysis is performed by full gene sequencing of all exons (coding regions), 20-30 base pairs into the introns (including splice sites), and the promoter region. This methodology should identify >99% of mutations listed in the Human Gene Mutation Database as well as novel mutations.

Specimen Requirements:
One 10 mL EDTA (lavendar top) tube. Two to three confluent T-25 flasks of cultured cells and one control flask are required for prenatal samples.

Shipping: Send at room temperature.

Turnaround Time: 2-3 weeks

Consent Form: Fabry Consent Form [PDF]

Requisition Form: Fabry Testing Information and Requisition [PDF]

Related Tests: alpha-Galactosidase (Fabry Disease)

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.