α-Galactosidase A Deficiency (Known Mutation)

Casandra

Casandra Test Code LC59042Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252230CPT Code 81403

α-Galactosidase A Deficiency (Known Mutation)

Also known as: Anderson-Fabry Disease, Fabry Disease

Clinical Use

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Use

Identify which family member harbors the familial mutation and is at high risk for α-galactosidase A deficiency. Indications for testing: Patients with clinical features of Fabry disease, both male and female; carrier testing for females with affected male relatives; patients with left ventricular hypertrophy or cardiomyopathy who otherwise do not have a classic Fabry disease phenotype; parents, siblings, and possibly children of a patient known to carry a mutation in GLA gene; prenatal testing when a parent is diagnosed with Fabry disease and has an identified GLA mutation.

Special Instructions

Not provided.

Limitations

The test method cannot detect large deletions, duplications, genomic rearrangements, or deep intronic variants. Results may be influenced by allele dropout, potentially leading to false positives or false negatives. It is critical to note that the methodology applied does not encompass a comprehensive analysis of the GLA gene beyond known familial mutations.

Test Details