Fabry Disease (GLA) Sequencing

Disorder Fabry Disease
Gene Name GLA
Clinical info Fabry disease is a lysosomal storage disorder in which absent or reduced production of alpha-galactosidase A leads to the systemic accumulation of globotriaoslyceramide. Total absence of enzyme production results in the more severe, classic form of Fabry disease, while reduced production of alpha-galactosidase A typically often involves milder symptoms that appear later in life. Episodic pain, angiokeratosis, and hypohydrosis are frequently seen in patients with Fabry disease as well as corneal clouding and hearing loss. Gastrointestinal issues and breathing problems are common, and complications including cardiac abnormalities, kidney disease, and strokes can be life-threatening. Although Fabry disease is an X-linked disorder that primarily affects males, carrier females may become symptomatic. This condition occurs in approximately 1 in 55,000 males, and the development of enzyme replacement therapy has greatly improved the prognosis for many patients.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests

Alpha-galactosidase enzyme analysis is available in the Biochemical Diagnostic Lab and can be used to help establish the diagnosis. 

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes

Unknown mutation: 81405

Known mutation: 81403

Deletion/Duplication analysis 81405

Cost $1000 for full sequencing (unknown mutation)

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.