Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia | Zendy

Barbara A. Bernhardt | Zendy; Cara Zayac | Zendy; Scott O. Trerotola | Zendy; David A. Asch | Zendy; Reed E. Pyeritz | Zendy

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Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Author(s) -

Barbara A. Bernhardt,

Cara Zayac,

Scott O. Trerotola,

David A. Asch,

Reed E. Pyeritz

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2011.56

Subject(s) - proband , telangiectasia , genetic testing , medicine , pedigree chart , diagnostic test , pediatrics , genetic diagnosis , mutation , pathology , genetics , biology , gene

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives.

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