Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

– The Alnylam Act ® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases – – Through the Alnylam Act ...

A new consensus statement recommended genetic testing for all categories of kidney diseases whenever a genetic cause is suspected and offered guidance on who to test, which tests are the most useful, ...

Genetic tests for Alzheimer’s can detect specific genes linked to the disease. In most cases, they can’t definitively confirm or predict a diagnosis, but they can provide insight into your relative ...

Even though a large proportion of cancer patients carry genetic mutations that make them more susceptible to cancer, only a small percentage of them — and their family members — undergo potentially ...

For Josh Henderson, 66, of Olympia, getting genetic testing was a no-brainer. “The first time I came to Fred Hutch, my oncologist suggested it,” said the retired IT manager who received a metastatic ...

MINNEAPOLIS — By definition, a variant of unknown significance identified in an individual with cardiomyopathy can leave physicians wondering what to do with the information. Don’t discard so-called ...

The treatment of clinical depression presents unique challenges, with many patients voicing concerns that echo a disheartening struggle: "I have tried every medication for depression, and nothing ...

Dr. Matt Goldstein and Myra Sack lost their daughter, Havi, to Tay-Sachs disease in 2021. Tay-Sachs is a rare, inherited genetic disease primarily affecting infants and young children. There is no ...