Monogenic Hypertension Genetic Panel
Also known as: Familial Hyperaldosteronism, Gordon syndrome, Liddle syndrome, Pseudohypoaldosteronism
Use
Diagnostic testing
Special Instructions
This assay is not available in New York state. Genetic counseling is recommended based on the test results, and results should be used alongside clinical information for managing or treating patients.
Limitations
The assay will not consistently detect mosaicism or detect large chromosomal rearrangements and inversions that do not alter copy number. It is also unable to detect repeat expansions. False positives or negatives may arise due to factors such as pseudogene interference, homologous regions, mismatched samples, and errors in family representation. Variants lacking sufficient information may pose interpretation challenges. Low levels of heteroplasmy in mitochondrial sequences may not be reliably detected. The clinical significance of variants can change as more genetic data becomes available.
Methodology
NGS
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |