Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The firm recently announced a $3.15 million grant from the NIH, and it supported work that resulted in the first-ever digital primary diagnosis of a suspected cancer case.

The firm's CEO said that by the end of the year, Celcuity will complete development of new cell-signaling function tests for breast and two other cancer types.

CEO Patrick Soon-Shiong said that GPS Cancer test revenues rose threefold year over year during Q4, and 606 GPS tests were ordered, up from 325 a year ago.

Natera and Qiagen have signed a 10-year agreement to develop cell-free DNA assays for use on Qiagen's GeneReader next-generation sequencing system.

The assay correlates shortened telomere lengths in patients of different ages to potential risks for inherited diseases, such as bone marrow failure syndrome and liver cancer.