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 Igenomix Hereditary Hemorrhagic Telangiectasia Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Hereditary Hemorrhagic Telangiectasia with or without the following manifestations:
- Spontaneous, recurrent nosebleeds
- Telangiectasia (dilated veins)
- Family history of HHT (first-degree relative)
- Hepatic or pulmonary bleeding
- Gastrointestinal bleeding
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical therapy and surgical treatment to decrease the amount of hemorrhage and minimizing sequelae of arteriovenous malformations.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
- Facilitate gene discovery, identify genetic modifiers to explain clinical variability and potentially define and increased spectrum of hereditary telangiectasia disorders.
Genes & Diseases
% GENE COVERAGE (20X)
457 of 462
467 of 471
65 of 65
51 of 57
169 of 169
136 of 136
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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Duffau, P., Lazarro, E., & Viallard, J. F. (2014). Maladie de Rendu-Osler [Hereditary hemorrhagic telangiectasia]. La Revue de medecine interne, 35(1), 21–27. https://doi.org/10.1016/j.revmed.2013.02.022
McDonald, J., Bayrak-Toydemir, P., & Pyeritz, R. E. (2011). Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genetics in medicine : official journal of the American College of Medical Genetics, 13(7), 607–616. https://doi.org/10.1097/GIM.0b013e3182136d32