Hereditary Hemorrhagic Telangiectasia (HHT) (Known Mutation)
Use
Testing for individuals who are at risk to have HHT (maybe affected or unaffected); the genetic mutation would have been determined already in another family member.
Special Instructions
Not provided.
Limitations
The test was developed and its performance characteristics determined by LabCorp but has not been cleared or approved by the FDA. It utilizes sequencing or quantitative multiplex PCR as needed for the known mutation type, particularly focusing on ENG, ACVRL1, and SMAD4 genes.
Methodology
PCR-based (qPCR)
Biomarkers
ENG, ACVRL1, SMAD4
Gene
LOINC Codes
- 69482-8 - ENG Fam Mut Anl Bld/T
Result Turnaround Time
28-52 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 five days
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