Summary Genetic testing is recommended for individuals with suspected heritable thoracic aortic disease (HTAD), as results can guide management, determine whether additional surveillance for extra cardiac features is indicated, and identify at- risk relatives. To further demonstrate the value of genetic testing for these patients, we reviewed results from…
Summary Pancreatitis can result from a combination of both genetic and non-genetic factors. Some genetic variants are highly penetrant, while others act as low penetrance “disease modifying” contributors, making results difficult to interpret. To better understand the inheritance patterns and complexity of results,, we reviewed genetic testing results from…
Summary Background: As the importance of genetic testing in primary immunodeficiency (PID) grows, this study aimed to add to the knowledge of genetics of PID by employing advanced sequencing techniques and focusing on difficult-to-sequence gene regions. Methods: A retrospective review of nearly 2,200 patients suspected of PID,…
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