Hereditary Hemorrhagic Telangiectasia (HHT)
We provide testing for Hereditary Hemorrhagic Telangiectasia – a genetic disorder of the blood vessels that affects about one in 8,000 people. This disorder is also referred to as Osler-Weber-Rendu syndrome (OWR) and affects males and females from all racial and ethnic groups.
Our lab uses quantitative multiplex PCR to look for whole-exon and multi-exon deletions and duplications. This method simultaneously screens for small intra-exon insertions and deletions.