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DNA Testing

Molecular testing for CF involves real time PCR methodology for a panel of common (around 23) mutations. The accuracy of the testing depends on the mutations detected and the ethnicity of the population tested. It is estimated that the core 23 mutation panel recommended by the American College of Medical Genetics will detect about 90% of Caucasians but only roughly 70% of Hispanic Americans, 65% of African Americans and 49% of Asian Americans.* For this reason, general population mutational screening for CF is not recommended. Testing platforms can be expanded to include more mutations and offer a greater degree of accuracy.

Next generation sequencing allows for the entire CFTR genome to be sequenced relatively quickly, and will detect all the mutations in the gene. However, some of the mutations will be benign polymorphisms not causing CF, making the interpretation of the results complex.



*Reference: Technical Standards and Guidelines for CFTR Mutation Testing: 2006 Edition. American College of Medical Genetics. Available at: https://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm#Table1. Accessed November 21, 2014.