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Fabry disease, full gene analysis

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Mayo 
Test ID: LAB2164 
Methodology: Polymerase chain reaction (PCR) amplification/DNA sequencing
Schedule: Weekly, varies
Reported: 4 weeks, 2 days
Specimen Requirements:  Collection: 5.0 mL Blood in a Lavender Top Tube.
Pediatric volume: 2 mL.
Whole blood; Lavender top (EDTA)
Handling: Specimen must arrive within 96 hours of draw..
Unacceptable conditions: Specimens other than whole blood; Anticoagulants other than: EDTA, ACD preferred - any anticoagulant acceptable; Stored frozen
Stability: Whole blood: 2 weeks

Notes: 

Clinical Indications: Fabry disease is an X-linked recessive disorder with an incidence of approximately 1 in 50,000 males. Symptoms result from a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). Reduced alpha-Gal A activity results in accumulation of glycosphingolipids in the lysosomes of both peripheral and visceral tissues.

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 81405
Last Changed: 11/01/2016 08:03:08
Last Reviewed: 11/20/2016 23:15:22