Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) and a negative targeted mutation analysis for the common mutations
Identification of mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)
Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background
Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy
This is not the preferred genetic test for carrier screening or initial diagnosis. For these situations, order CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies
This test is not the preferred first-tier molecular test for carrier screening or diagnosis. It is used to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) when CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies is negative or uninformative.
This test includes next-generation sequencing to evaluate for mutations in the CFTR gene. Sanger sequencing may be performed to confirm detected variants.
