Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication
Consider for symptomatic individuals, particularly individuals suspected of having HHT who do not meet established clinical criteria.
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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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