Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Recommended diagnostic test for individuals with clinical features of hereditary hemorrhagic telangiectasia (HHT).
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
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)
Note
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.
Hotline History
Hotline History
CPT Codes
81405; 81406; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2009338 | HHT Panel Specimen | |
2009341 | HHT Panel Interpretation |
Aliases
- BMP9
- CM-AVM
- CM/AVM
- JPS
- juvenile polyposis syndrome
- Osler-Weber-Rendu syndrome
- Parkes Weber syndrome