Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication
Consider for symptomatic individuals who meet 3 or 4 clinical criteria for HHT (recurrent epistaxis, mucocutaneous telangiectases at characteristic sites, internal AVMs, or first-degree relative with HHT).
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for HHT with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
GENES TESTED: ACVRL1, ENG, EPHB4**, GDF2, RASA1, SMAD4
** Deletion/duplication detection is not available for this gene.
81228; 81405; 81406; 81479
|Component Test Code*||Component Chart Name||LOINC|
|2009338||HHT Panel Specimen|
|2009341||HHT Panel Interpretation|
- juvenile polyposis syndrome
- Osler-Weber-Rendu syndrome
- Parkes Weber syndrome