Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication
Recommended diagnostic test for individuals with clinical features of hereditary hemorrhagic telangiectasia (HHT).
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
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, BMPR2, ENG,* EPHB4, GDF2, RASA1, SMAD4
*One or more exons are not covered by deletion/duplication analysis for the indicated gene; see Additional Technical Information.
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