Overview

Offering Genetic Testing & Counseling For Families With HHT

Offering Genetic Testing & Counseling For Families With HHT

The University of Utah Health HHT Center offers comprehensive genetic counseling and testing for HHT families. HHT is caused by a mutation in one of multiple genes. Although each HHT family has its own private HHT-causing gene mutation—the exact same mutation always causes HHT within a given family. If a particular family’s gene mutation is determined, this can be helpful for two reasons:

  1. The genetic subtypes of HHT have some clinical differences; knowing these can be helpful when making medical screening recommendations for an HHT patient or family.
  2. It allows for the possibility of pre-implantation genetic diagnosis, prenatal diagnosis, and/or diagnostic testing for HHT on a blood sample at or soon after birth for members of an HHT family.

Researchers at U of U Health HHT center are actively working to better understand the multiple genes that give rise to HHT.