Horizon, Invitae Partner to Provide Free Genetic Testing for Urea Cycle Disorder

Horizon Therapeutics has partnered with Invitae for its urea cycle disorder genetic (UCD) testing program, through which individuals who may have the rare genetic condition and their family members will receive testing at no charge.

Within the program, Invitae will provide its Hyperammonemia Panel which assesses 58 genes involved with the enzymes and proteins that produce and detoxify ammonia. The most common form of UCD is caused by alterations in the OTC gene, which is typically passed on maternally through the X chromosome.

Source: https://www.genomeweb.com/business-news/horizon-invitae-partner-provide-free-genetic-testing-urea-cycle-disorder