Specialized Testing

Cystic Fibrosis Carrier Screening

Cystic Fibrosis Mutation Screen

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Order Name: CYSTIC GEN
Test Number: 1515700
Test Description

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:

ΔF508 R334W F508C R347P W1282X I148T
3849+10kbC>T R347P R1162X D1152H N1303K R560T
1717-1G>A 1078delT G85E G542X 621+1G>T 394delITT
D1270N V520F 3849+4A>G 3120+1G>A 1898+1G>A R347H
R117H 711+1G>T 3659delC 2789+5G>A 2184delA Y122X
IVS8-5T G551D R553X A455E Q493X E60X
IVS8-7T 3876delA Y1092X C>A 3905insT 2183AA>G IVS8-9T
S549R A>C Y1092X C>G ∆I507 S549N