Verinata Health has launched Verifi, its noninvasive sequencing-based test to diagnose fetal trisomy 21, trisomy 18, and trisomy 13 in high-risk pregnancies. According to the company's website, the test is available for women as early as 10 weeks into pregnancy and has a turnaround time of eight to 10 business days.
Bio-Reference subsidiary GeneDx has launched its XomeDx exome sequencing test to diagnose rare diseases. The test is intended for patients who have gone through routine diagnostic tests without receiving a diagnosis. Out-of-pocket costs will be under $1,000 for a set of three tests, including the patient and two healthy family members, according to the company (CSN 10/19/2012).
The Wellcome Trust Sanger Institute has released version 58 of COSMIC, the Catalog of Somatic Mutations in Cancer. Five new fusion gene pairs and one new cancer gene are curated in the new release. Additionally, 13 new genes have been added to the cancer gene census, bringing the total genes implicated in cancer to 487.