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        Genomics Precision Diagnostic > Hematology Precision Panel > Hereditary Hemorrhagic Telangiectasia Precision Panel

        Hereditary Hemorrhagic Telangiectasia Precision Panel

        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. 
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • 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.  

           

        Indication

        • 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 

        Clinical Utility

        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

        Methodology

        References

        See scientific referrals

        Shovlin, C. L., Simeoni, I., Downes, K., Frazer, Z. C., Megy, K., Bernabeu-Herrero, M. E., Shurr, A., Brimley, J., Patel, D., Kell, L., Stephens, J., Turbin, I. G., Aldred, M. A., Penkett, C. J., Ouwehand, W. H., Jovine, L., & Turro, E. (2020). Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Blood, 136(17), 1907–1918. https://doi.org/10.1182/blood.2019004560 

        Leng, H., Zhang, Q., & Shi, L. (2019). Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery, 33(7), 591–592. https://doi.org/10.13201/j.issn.1001-1781.2019.07.004 

        McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., Whitehead, K., Stevenson, D. A., & Bayrak-Toydemir, P. (2015). Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Frontiers in genetics, 6, 1. https://doi.org/10.3389/fgene.2015.00001 

        Major, T., Gindele, R., Szabó, Z., Jóni, N., Kis, Z., Bora, L., Bárdossy,P., Rácz, T., Karosi, T., & Bereczky, Z. (2019). A herediter haemorrhagiás teleangiectasia (Osler–Weber–Rendu-kór) genetikai diagnosztikája [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)]. Orvosi hetilap, 160(18), 710–719. https://doi.org/10.1556/650.2019.31380 

        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 

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