exome sequencing

The company offers a range of exome-based tests that include both diagnostic tests for rare disease as well as disease-risk screening for asymptomatic adults.

The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.

Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.

A PLUGS collaboration with EviCore resulted in the lab benefit manager creating a policy for covering whole-exome sequencing.

The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing.