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
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.
Laboratory Developed Test (LDT)
GENES TESTED: ACVRL1, ENG, EPHB4**, GDF2, RASA1, SMAD4
** Deletion/duplication detection is not available for this gene.
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