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 mutation analysis by sequencing include: family history of Fabry disease, clinical characteristics of Fabry disease, GLA deficiency by enzyme analysis, positive newborn screen for Fabry disease, or prenatal testing for at-risk fetuses.
Full Sequencing:
83891(1), 83892(8), 83898(8), 83904(16), 83909(16), 83912(1)
Single Exon Sequencing:
83891(1), 83892(1), 83898(1), 83904(2), 83909(2), 83912(1)
Each additional exon:
83898(1), 83892(1), 83909(2), 83904(2)
Specimen Requirements:
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Blood:
- ACD-A (yellow-top) or EDTA (lavender-top) tubes.
- Adult: 10 ml whole blood.
- Bloodspot:
- Guthrie cards (dried blood spot): Ensure sufficient quantity of blood to saturate and completely fill a minimum of three preprinted circles on the paper.
- Prenatal:
- All prenatal specimens (including cord blood) must be accompanied by samples from both parents.
- Discard first 2 ml; then 15 ml amniotic fluid in 15 ml orange-top polypropylene tube or 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or two T-25 flasks of confluent fetal cells.
- Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.
- Partial Fabry gene sequencing may be performed using direct chorionic villi samples, but cultured cells are preferred.
- Full Fabry gene sequencing requires cultured cells from amniotic fluid or chorionic villi samples.
Turnaround Time:
21 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226