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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.

See video:
Genetics: Unraveling Your DNA - Jaime Jessen, BSc, MSc, CGC, CCGC