Genetic testing is available for families who are affected by HHT

Genetic testing for HHT is quite complex and has some limitations compared to most other laboratory tests.

Genetic testing is most often clinically helpful for a child, teenager or young adult whose parent has HHT. It is less often clinically helpful for adults since by adulthood the diagnosis of HHT can usually be made without the expense of genetic testing. However, before a child or teenager can be tested, one family member with clear symptoms of HHT must be tested first.

Genetic testing is usually performed on a blood sample - but it is not “just a simple blood test”. It requires planning and coordination within a family. If you are interested in genetic testing, you should set up an appointment with a genetics clinic in their area, or an HHT Center . Very few physicians outside of a genetics clinic or HHT center are able to implement and interpret genetic testing for a rare, complex condition such as HHT.

Note: Click on “Genetic Testing ” which provides more detailed information about genetic testing for HHT.