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New Products: NewGene's Noonan Syndrome Test; Verinata Health's Verifi


NewGene has launched a sequencing-based test on Roche's 454 GS FLX for Noonan syndrome and other related disorders. Such disorders, known as rasopathies, are autosomal dominant and characterized by facial dysmorphism, cardiac disease, postnatal reduced growth, ectodermal and skeletal defects, and cognitive deficits.

The test screens 12 genes, including all coding exons of 11 genes plus exon 2 of SHOC2.

Verinata Health has expanded its Verifi test for trisomy 21, 18, and 13, to now include detection of Turner syndrome, a genetic condition in which a person has one X chromosome and is missing a second sex chromosome.

The Monosomy X option to detect Turner syndrome will be an optional addition to the Verifi test. The option will be available for patients with cystic hygroma, an ultrasound finding that suggests that the fetus has an increased risk of having an abnormal number of chromosomes.

According to the company, in a clinical study, the test detected 19 out of 20 cases of Turner syndrome for a 95 percent sensitivity rate, with no false positives (54 out of 54 true negatives, or 100 percent specificity).