α-Galactosidase A Deficiency (Known Mutation)
Also known as: Anderson-Fabry Disease, Fabry Disease
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
Family members can be tested for the presence of a specific familial mutation once it is identified in an index patient. Additional amplicon testing may incur extra charges. Samples should be maintained at room temperature and proper containers must be used to avoid rejection.
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.
Methodology
NGS
Biomarkers
LOINC Codes
- 34515-7
- 34515-7
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container