Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Test Information

Title
Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
Lab
Category
Hematology
Test Name (CMS Title)
Hereditary Hemorrhagic Telangiectasia (HHT)
Gene/Platform/Region List
ACVRL1, ENG
Test type
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA
Disease/Condition
Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome

Last Updated: November 14, 2025

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538,TTY 1-800-855-0511, or by email at info@ontariohealth.ca.

The province of Ontario Logo
© Ontario Health 2025