Fabry disease is an X-linked disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal enzyme, α-galactosidase A (GLA). Signs and symptoms include angiokeratomas, ocular opacities, painful neuropathy in the extremities, progressive renal insufficiency and cardiac hypertrophy. Untreated, death usually occurs in early to mid-adulthood. Treatment is available for individuals with Fabry disease.
Confirmation of the clinical diagnosis in affected hemizygous males can be accomplished by demonstration of deficient α-galactosidase A activity in plasma or leukocytes. However, determination of carrier status in heterozygous females typically cannot be accomplished by testing α-galactosidase A activity.
Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.
CPT Codes:
82657(1), 84155(1)
Specimen Requirements:
Please Note: Time-sensitive; specimens must be received within 4 days of collection; please collect/ship Monday-Thursday only.
Blood:
Enzyme Testing Only:
- Adult: Two 10 ml EDTA (lavender-top) tubes.
- Child: One 10 ml EDTA (lavender-top) tube.
Enzyme and DNA Sequence Analysis:
- Four 10 ml EDTA (lavender-top) tubes.
Turnaround Time:
7-14 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226