Regional Medical Laboratory

Cystic Fibrosis Mutation Screen

Testing will be performed with Third Wave Technology’s Invader® assay. Approximately 95% of all CF tests return negative results. Of the 25 recommended mutations, a single mutation DF508 represents 63% of all positive mutations (or 2.96% of all test results). The Invader assay allows for the individual genotyping of DF508 and 218delA while screening for the other mutations in four reaction mixes. This will allow us to rapidly and cost effectively address 98% of all CF tests. In the event that a mutation mix is positive, the sample will be referred to a specialty laboratory for specific mutation genotyping.

A full peripheral blood sample collected in EDTA (purple top) is required and should be transported at room temperature (NOT FROZEN).

The CF (cystic fibrosis) transmembrane conductance regulator (CFTR) gene wastested for the presence of 46 specific mutations, including the 25 mutations recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG), by genotyping to determine if they are negative, heterozygous, or homozygous for the mutation. This test will detect the F508C MUTATION, a non-cystic fibrosis (CF)-causing variant. When the F508C mutation is paired with a CF-causing mutation, it has been associated with congenital bilateral absence or atresia of the vas deferens (CBAVD). The CYSTIC GEN assay tests following mutations: