ACMG recommendations

A core mutation panel recommended for general population carrier screening for cystic fibrosis was prepared in 2001 by the American College of Medical Genetics (ACMG) Subcommittee on Cystic Fibrosis Screening under the auspices of the ACMG Accreditation of Genetic Services Committee. The panel was published as part of a final comprehensive document, "Preconceptional and Prenatal Carrier Screening for Cystic Fibrosis."

The core mutation panel is released for planning and information purposes only and NOT to advertise or promote any product or service.

Standard Mutation Panel:

D    F508, D I507, G542X, G551D, W1282X, N1303K, R553X, 621+1G>T, R117H, 1717-1G>A, A455E, R560T, R1162X, G85E, R334W, R347P, 711+1G>T, 1898+1G>A, 2184delA, 1078delT, 3849+10kbC>T, 2789+5G>A, 3659delC, I148T, 3120+1G>A 

Reflex Tests:

I506V*, I507V*, F508C*, 5T/7T/9T**

* Benign Variants. This test distinguishes between a CF mutation and these benign variants. I506V, I507V, and F508C are performed only as reflex tests for unexpected homozygosity for D F508 and/or D I507.

** 5T in cis can modify R117H phenotype or alone can contribute to congenital bilateral absence of vas deferens (CBAVD); 5T analysis is performed only as a reflex test for R117H positives.

The subcommittee reported to a steering committee comprised of representatives of the ACMG, the American College of Obstetricians and Gynecologists, and the National Human Genome Research Institute.