Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disease that affects blood vessels throughout the body, causing a vascular dysplasia that leads to an increase tendency of bleeding. The bleeding presents as arteriovenous malformations (AVMs) and telangiectasias in specific locations, a potential source of serios morbidity and mortality. It is characterized by nosebleeds, telangiectasias on the lips, hands and oral mucosa. Symptom on set may be delayed until the fourth decade of life or later, and prognosis is variable depending on the severity and location of the bleeding.
The Igenomix Organic Hereditary Hemorrhagic Telangiectasia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of recurrent bleeding ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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