Fabry Disease via the GLA Gene
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of Fabry disease. It is specifically designed for males with low or absent alpha-galactosidase A enzyme activity and females with a family history or clinical features suggestive of Fabry disease. Fabry disease is a genetic disorder that results from an abnormal buildup of a particular type of fat, called globotriaosylceramide, in the body's cells.
Special Instructions
The test uses NGS with CNV and platforms available include Exome or Genome. The test offers standard and STAT options, with a 2 - 3 week turnaround for standard and up to 16 days for STAT.
Limitations
The test is performed using next-generation sequencing (NGS) along with copy number variation (CNV) analysis. As with most genetic tests, potential limitations include the inability to detect all possible genetic variations. The test does not cover non-exonic regulatory regions, and deep intronic variants may not be detected. Certain large deletions, duplications, or mutations in repetitive regions may not be identified. The accuracy of the test depends on the quality of the specimen provided.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided