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genetic testing

The integration could provide a more complete phenotypic picture that helps clinicians prioritize genetic variants that may have otherwise been missed.

FDNA's Face2Gene suite analyzes phenotypic data, including facial features, from rare disease patients.

Invitae said that it accessioned more than 26,000 samples for testing during the quarter, a 166 percent increase over Q1 2016. 

To study the benefit of genetic testing data, the Foundation Fighting Blindness offered free clinical testing to 100 members of its My Retina Tracker patient registry.

The program aims to assist hundreds of people diagnosed with PKU to obtain simple and affordable access to mutation analysis of the PAH gene. 

The Israeli startup is establishing a global digital marketplace to facilitate genetic testing services.

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

The guidance includes recommendations for extended RAS mutation testing to guide anti-EGFR therapy, as well as updated endorsements for analysis of mismatch repair status.

The vice president of clinical programs at ACP discusses what's happened in the five years since a report made recommendations on how to cut down on unnecessary testing. 

The firm said that business agreements with IBM, Ancestry, and others will help it stay on track in meeting commitments for the year.

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