Genetic Testing and HHT

HHT Scientific Conference Summaries (recorded)

  Drs. Hughes, Faughnan and Andrejecsk provide a first hand synopsis of the HHT science presented in Dubrovnik, Croatia where over 200 voices were heard from 23 countries. They reviewed the 12th HHT International Conference Executive Summary of…

Abstracts – 12th HHT International Scientific Conference (2017)

Angiogenesis. This article can be purchased directly from the publisher. Click to view the article description and purchase options.

Executive Summary – 12th HHT International Scientific Conference (2017)

Angiogenesis. Authors: Jillian W. Andrejecsk, Anna E. Hosman, Luisa M. Botella, Claire L. Shovlin, Helen M. Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C. W. Hughes, Franck Lebrin, Christine L. Mummery, Marco C. Post, and Johannes…

Learn About HHT Genetic Testing

Genetic testing is a critical component of your HHT journey and family history. Get answers to the most commonly asked genetic testing questions. Specifically, it is useful in confirming a diagnosis of HHT and identifying family members who may have…

Family Ties: Genetic Testing

As a hereditary disease, HHT has the potential to devastate families if not identified and treated. Some of the most easily identifiable symptoms of HHT don’t manifest until adolescence or adulthood. Be proactive and identify affected family members…

HHT Genetic Testing Services – Information for Clinicians

Abstracts – 11th HHT International Scientific Conference (2015)

Angiogenesis. This article can be purchased directly from the publisher. Click to view the article description and purchase options.

Executive Summary – 11th HHT International Scientific Conference (2015)

Angiogenesis. Authors: Helen Arthur, Urban Geisthoff, James R. Gossage, Christopher C. W. Hughes, Pascal Lacombe, Mary E. Meek, Paul Oh, Beth L Roman, Scott O. Trerotola, Sebastiaan Velthuis, and Whitney Wooderchak-Donahue. This article can be purcha…

Hereditary Hemorrhagic Telangiectasia: Genetics and Molecular Diagnostics in a New Era

Frontiers in Genetics. Authors: Jamie McDonald, Whitney Wooderchak-Donahue, Chad VanSant Webb, Kevin Whitehead, David A. Stevenson and Pinar Bayrak-Toydemir. This article is available for public use and does not require purchase. Click to view the fu…

Genetic Testing for HHT

JCOM. Author: Barbara A. Bernhardt, MS, CGC. This article is available for public use and does not require purchase. Click to view the full article.

Cost Savings through Molecular Diagnosis for HHT

Genetics in Medicine. Authors: Barbara A. Bernhardt, Cara Zayac, Scott O. Trerotola, David A. Asch, and Reed E. Pyeritz. This article is available for public use and does not require purchase. Click to view the full article.

HHT: An Overview of Diagnosis, Management and Pathogenesis

Genetics in Medicine. Authors: Jamie McDonald, MS, Pinar Bayrak-Toydemir, MD, PhD, and Reed E. Pyeritz, MD, PhD. This article is available for public use and does not require purchase. Click to view the full article.

Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management

American Family Physician. Author: Scott E. Olitsky. This article is available for public use and does not require purchase. Click to view the full article.

HHT: A Clinical and Scientific Review

European Journal of Human Genetics. Authors: Fatima S. Govani and Claire L Shovlin. This article is available for public use and does not require purchase. Click to view the full article.