CFTR Comprehensive - Sequence & Deletion/Duplication Analysis

Clinical Use

Use

The CFTR Comprehensive - Sequence & Deletion/Duplication Analysis is designed to identify pathogenic variants associated with cystic fibrosis and CFTR-related disorders. This assay covers all 27 exons of the CFTR gene and evaluates the c.1210-12T(5T) allele. Reflex TG repeat analysis is conducted for 5T positive samples. Cystic fibrosis (CF) is a genetic disorder primarily affecting the lungs and digestive tract, characterized by mucus buildup that leads to infections and other complications. Patients may present with symptoms like respiratory issues, meconium ileus, and pancreatic insufficiency. Furthermore, specific CFTR variants can lead to non-classic or mild CF forms and affect fertility in males due to congenital absence of the vas deferens (CAVD). Understanding these variants can help guide management and treatment options for patients.

Special Instructions

Testing is indicated for individuals with a clinical or suspected diagnosis of cystic fibrosis, those with a family history, or individuals who are planning a pregnancy. It is essential to note that for variants previously identified in affected family members, a specific test (code 6371) must be ordered for carrier screening. The procedural workflow demands soil samples to be collected from specific anatomical locations for maximum viability. Proper handling and shipping conditions are crucial to maintain sample integrity, including temperature controls and timely delivery of samples.

Limitations

Limited to the analysis of exons and the specified allele. Not all variants are detectable, and the presence of variants does not always correlate with clinical symptoms. Results may be influenced by the quality of the specimen provided. Additional testing may be necessary to detect certain types of mutations, such as intronic variants or regulatory region alterations that could contribute to the phenotype, and these may not be included in this analysis.

Test Details