The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.
Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
The addition of the Y chromosome detection will enable the firm to refine its already-approved MaternalFetalScreen T1 test to provide personalized risk assessment.
Under a proposed decision, to be finalized in August and become effective in late 2020, NIPT would only be covered for women with particular fetal trisomy risks.
The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.
The firm's assay measures the concentration of the wild type and mutant alleles of hFE protein at three different mutation sites from a person's blood sample.
Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.
