Gitelman Syndrome via the SLC12A3 Gene
Use
This test is intended for individuals who exhibit features or have a clinical diagnosis of Gitelman syndrome, or who have family members with known pathogenic variants in the SLC12A3 gene. It is also suitable for reproductive partners of individuals carrying a known pathogenic variant in the SLC12A3 gene. The test provides genetic confirmation by identifying variants in the SLC12A3 gene associated with Gitelman syndrome, aiding in diagnosis, guiding treatment decisions, and assisting in genetic counseling.
Special Instructions
The test can be ordered using various specimen types depending on the platform used (Exome Platform or Genome Platform). Exome-Wide CNV Analysis can be added for a fee of $250 with PGxome-based orders. Orders must be supported by completed requisition forms, and tests are conducted under CAP and CLIA regulations.
Limitations
This test's limitations include its ability to detect variants only within the SLC12A3 gene. It is not approved or cleared by the US Food and Drug Administration. Furthermore, if report delivery exceeds 16 days for STAT blood sample submissions, the additional STAT surcharge is not applied. The test results depend heavily on the quality of clinical information provided.
Methodology
NGS
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided