Hereditary Hemorrhagic Telangiectasia (HHT), Proband
Use
Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing
Special Instructions
Not provided.
Limitations
This test was developed and its performance characteristics were determined by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). While the test screens for gene mutations associated with HHT, it may not detect all possible mutations. Therefore, a negative result does not rule out the presence of a genetic cause of HHT. Additionally, some mutations may not be detected if they are outside the testing regions or if they involve complex genetic mechanisms not assessed by this test.
Methodology
PCR-based (qPCR)
Biomarkers
ENG, ACVRL1, SMAD4
Gene
Result Turnaround Time
63-98 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL (adult); 5 mL (infant)
Minimum Volume
4 mL (adult); 2 mL (infant)
Container
Yellow-top (ACD) tube or lavender-top (EDTA) tube
Collection Instructions
Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.
Storage Instructions
Room temperature. Stable at room temperature for seven days.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
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