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Fabry disease
 
Test Synonyms:
Fabry disease
 
Lab:
Neurogenetics
Inpatient Req:
Please see the PDF requisition linked below  
Outpatient Req:
Please see the PDF requisition linked below  
Specimen:
Please see the link below
Result Time:
1 week for enzyme testing; 4 weeks for DNA testing  
Reference Interval:
 
Important Information:
If enzyme assay testing yields results where AGAL levels are in the “probable” or “indeterminate” category, the sample will be reflexed into DNA screening. The DNA screening technology uses a fluorescent heteroduplex assay to detect potential mutations in the GLA gene. Directed sequencing of the GLA gene is done if mutational screening is positive. Full DNA sequencing can be done with prior authorization.
Additional Resources:
Sample preparation
Requisition
Laboratory website