Test Code: PNL296

Genes: GLA (1 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method:

Turnaround Time: 3-4 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing progressive multi-organ damage.