Test Code: PNL296

Fabry disease

CardioVascular Genetics

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.

Sample Type

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

Turnaround Time

3-4 weeks days

Courier Requirements

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

Pricing

Genes Analyzed

1 genes

GLA

Test Code PNL296
Category CardioVascular Genetics
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 3-4 weeks days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 1 genes analyzed

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