CYSTIC FIBROSIS

Cystic fibrosis (CF) is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity vary among affected individuals. Patients with CF may present with severe problems with breathing, chronic bacterial infections in the lungs, chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue and cysts in the lungs. Patients may also experience pancreatic insuffiency, failure to thrive, chronic diarrhea, poor weight gain and vitamin deficiencies. Mutations in the CFTR gene result in congenital bilateral absence of the vas deferens in men. More than half of all men with this condition have mutations in the CFTR gene. When congenital bilateral absence of the vas deferens occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis (CF).

Mutations in the CFTR gene are the root cause for CF. There are over 1800 known mutations in the CFTR gene. The American College of Medical Genetics and Genomics (ACMG) recommends analysis for only 25 disease causing variants in the CFTR gene. Our assay covers the 25 mutations designated by ACMG as well as providing coverage for over 1800 other known mutations as listed in the Human Gene Mutation Database (HGMD).

This assay employs next-generation sequencing, providing coverage for all exons and flanking regions of the CFTR gene. This allows for more than 99% of the reported pathogenic variants to be detected regardless of the patient's ethnic background. Deletion/duplication analysis is also available for this gene.

Turn-Around-Time: 21 days

Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Use the Single Gene Sequencing Test Order Form