Genzyme s CF87 test screens for the 64 most common mutations, along with 23 rarer mutations. By screening for this broader range of mutations, the CF87 test increases testing sensitivity in the ethnically diverse U.S. population. Specifically, a 25-mutation panel would miss 6 of every 100 carriers that would be detected by the CF87 test. The 25-mutation panel would miss 3 of every 1,000 carrier couples that would be detected with the CF87 test. Cystic fibrosis is the most common fatal hereditary disease among Caucasians in the United States, with a median life expectancy for CF patients of 32 years.
Cystic fibrosis is caused by a defective gene that affects multiple aspects of cellular function.
The most debilitating consequences of the disease occur in the lungs of patients, where abnormally thick, sticky mucus clogs the airways, leading to fatal lung infections. Genzyme Genetics, a business unit of Genzyme General, is a leader in providing high quality genetic testing and counseling services to health care professionals and their patients, performing nearly 400,000 genetic tests a year. Genzyme Genetics is the largest provider of cystic fibrosis screening in the world. Genzyme General develops and markets therapeutic products and diagnostic products and services. Genzyme General has four therapeutic products on the market and a strong pipeline of products in development focused on the treatment of genetic disorders and other chronic debilitating diseases with well-defined patient populations.