Appropriate test to confirm a clinical diagnosis of a HHT. Consider in particular when a telangiectasia/AVM syndrome is suspected, but symptoms are not classic for HHT.
- Patient Preparation
- Lavender (EDTA) or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Submit the Patient History Form for HHT with the Electronic Packing List.
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2009343||HHT Sequencing Specimen|
|2009344||HHT Sequencing Interpretation|
- 0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication
- 2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
- 2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication
- 2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing
- ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
- Osler-Weber-Rendu syndrome