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Fabry disease
GLA (Alpha Galactosidase-A)
Males with Fabry disease have attacks of abdominal pain and arthralgia. Vascular skin lesions (angiokeratoma) are frequent, and vascular lesions may also occur elsewhere, including ocular fundi and kidney. Whorl-like corneal dystrophy is not uncommon. Neurological symptoms include autonomic dysfunction, orthostatic hypotension, and acroparasthesia. Angina, exercise intolerance and EKG changes occur, o ften with normal coronary arteries, heart size and hemodynamics, although left ventricular wall and septal hypertrophy are not infrequent. Respiratory complications include chronic airflow obstruction. Ultimately, renal failure may cause death. Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.
Mutations in the X-linked GLA gene are identified by complete sequence analysis of the 7 GLA exons and their intron/exon boundaries. The analysis is performed on genomic DNA obtained from buccal swabs (GeneDx kits only) or a venous blood sample (2-5ml in EDTA). Mutation detection in female relatives and prenatal diagnosis is available once the mutation in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
GLA, Anderson, lipidosis, galactosidase, Fabry, fatigue, pain, renal failure
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