Cystic fibrosis (CF) is an autosomal recessive disease caused by inherited mutations in the CF transmembrane regulator gene. When both parents are carriers of the CF mutation, their child has a one in two chance of also carrying the mutation and a one in four chance of being affected with CF.
Cystic Fibrosis Mutation Analysis
To identify carrier status, we offer CF testing based on the American College of Medical Genetics (ACMG) recommended core mutation panel. The CF mutation panel performed by MPLN detects 32 mutations and one polymorphism in the CFTR gene, including the 25 core mutations recommended by the ACMG. The remaining mutations are rare and account for only a small percentage of CF cases.
Test Information and Specimen Requirements
CF testing can be performed on blood, buccal swab and liquid based cytology media. Diagnostic as well as prenatal testing is available upon request. For more information about our CF tests and services, contact us at 800-932-2943.
Our Testing Resources
Cystic fibrosis information for patients
Cystic fibrosis testing information