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GeneDx, Krystal Biotech Partner to Offer Free Genetic Testing for Rare Skin Disease

NEW YORK — GeneDx has partnered with gene therapy developer Krystal Biotech to provide no-cost genetic testing for epidermolysis bullosa, a rare skin disorder for which Krystal is developing a treatment, the companies said on Tuesday.

EB is characterized by fragile skin that is prone to blistering and tearing. There are four types of the disease, each caused by mutations in different genes. Krystal currently has a drug for dystrophic EB, which is caused by mutations in the COL7A1 gene, in Phase III development.

Under the terms of their deal, Krystal and GeneDx will work together to provide free genetic testing for all forms of EB, with the goal of helping dystrophic EB patients receive a diagnosis sooner. The test, the companies said, uses a panel of genes to distinguish different forms of EB, as well as genetic conditions with similar symptoms.

Additional terms were not disclosed.

"Many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment, and unfamiliarity with the impact of genetic information on healthcare delivery," Jeanett Segal, US medical director for Krystal, said in a statement. "Fortunately, genetic tests are available, and we are thrilled to work with GeneDx to offer this at no charge to patients with EB symptoms."

Gaithersburg, Maryland-based GeneDx is a subsidiary of Opko Health's BioReference Laboratories.