Carrier screening tests help identify individuals who may have an increased risk of having a baby with certain genetic conditions. Healthy individuals with no family history of the condition and that already have healthy children, may be carriers of a genetic condition; for example, cystic fibrosis. Approximately 1 in 30 Americans - more than 10 million people - are carriers of a cystic fibrosis gene mutation, making it one of the most common genetic disorders in the United States. Children have cystic fibrosis when they have two mutations in the gene that cause CF - inheriting one mutation from the mother and the other from the father. According to the American College of Obstetricians and Gynecologists (ACOG) and the ACMG, cystic fibrosis carrier screening should be offered to all Caucasian couples who are expecting a baby or are considering pregnancy, and further, should be made available to all patients regardless of ethnicity. About 1.1 million cystic fibrosis carrier screening tests are performed each year in the U.S. With an average reimbursement rate of $200-$400 per test; the U.S. market is estimated to be in excess of $300 million per year.

"The commercial launch of this test is an important milestone for us as it marks the first laboratory developed test launched by our lab, the Sequenom Center for Molecular Medicine," stated Harry Stylli, PhD, Sequenom's president and chief executive officer. "This screening tool offers an outstanding testing option for patients and their care providers. We are developing and plan to offer a menu of superior women's health related molecular tests, including proprietary, cell free fetal nucleic acid based tests such as fetal sex determination, fetal RHD genotyping, trisomy 21 and others."

Source: sequenom