Test ID: CFTRZ    
CFTR Gene, Full Gene Analysis, Varies

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.

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

• Molecular Genetics: Congenital Inherited Diseases Patient Information
• Informed Consent for Genetic Testing
• Cystic Fibrosis Molecular Diagnostic Testing Algorithm
• Informed Consent for Genetic Testing (Spanish)

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing (when appropriate) and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)