Test Menu Expanded to Include Hundreds of New Genes

By LabMedica International staff writers
Posted on 20 Oct 2015

Image: Ciliary ultrastructure on the right from a patient with primary ciliary dyskinesia (PCD) showing the absence of outer and inner dynein arms and on the left normal cilium from a healthy individual in which both inner and outer dynein arms can clearly identified (Photo courtesy of Dr. J. Carson, PhD).

A genetic information company has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will release the new content between now and the end of 2015.

With this expanded test menu, the company will be able to provide clinicians and patients with high-quality genetic information for a greatly expanded number of genes and disorders, all at the same price and with rapid turnaround times. The expanded menu has dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric, and other rare disorders.

The expanded panel includes more than 40 test panels, comprised of more than 70 carefully curated genes. The hereditary cancer menu consists of a mix of broader tests and smaller focused panels. The new offering includes a new common hereditary cancers panel and a gastric cancer panel, as well as expanded breast, gynecologic, colon, and pancreatic cancer panels. The comprehensive cardiovascular testing includes more than 30 test panels, representing more than 190 carefully curated genes. The new test menu includes large combination panels for several conditions, including arrhythmias, cardiomyopathies, aortopathies, familial hypercholesterolemia, pulmonary hypertension, and congenital heart disease.

The Invitae Corporation (San Francisco, CA, USA) has also expanded its neuromuscular testing with 15 major test panels, comprised of nearly 100 carefully curated genes for disorders including Duchenne/Becker muscular dystrophy, dystonia, Charcot-Marie-Tooth disease, and hereditary spastic paraplegia. They have also expanded pediatric and rare disorder testing with more than 40 test panels comprising more than 140 carefully curated genes, for disorders including RASopathies and primary ciliary dyskinesia (PCD). Invitae also continues to offer testing for hematology-related disorders, including hereditary hemochromatosis and hereditary thrombophilia.

Related Links:
Invitae Corporation