|Downtime form:||A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery|
|Lavender top tube 3 mL (EDTA)|
Absolute Minimum: 2.0 ml whole blood
Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication Characteristics: Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), and arteriovenous malformations (lung, brain, liver, spine). Incidence: 1:5,000-10,000 Inheritance: Autosomal dominant. Penetrance: Approaches 100 percent by age 40. Cause: Mutations in endoglin (ENG), activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 or other unidentified gene(s). Clinical Sensitivity: Approximately 85 percent Analytic Sensitivity: 99 percent for sequencing and 90 percent for MLPA. Analytic Specificity: 99 percent for sequencing and 98 percent for MLPA.
Please print, complete and submit the following forms to the lab, with the specimen and the A-1a Miscellaneous Request:
HHT Testing Consent Form (Full Gene)
Patient History for HHT from ARUP Laboratories.