The Cystic Fibrosis Test examines the CFTR gene, which is linked to cystic fibrosis (CF), congenital absence of the vas deferens (CAVD), and chronic pancreatitis. Mutations in the CFTR gene disrupt chloride channels in cell membranes, leading to difficulty regulating water and chloride ion flow. This causes thick mucus to clog airways, the pancreas, and the digestive system. Genetic testing for CF is valuable due to the strong connection between specific gene variants and their effects on individuals. The test analyzes various variants in the CFTR gene, including the TG/T tract in intron 9 and known variants in other regions. Only variants classified as likely pathogenic, pathogenic, or of uncertain significance are included in the test report. Benign or likely benign variants can be requested separately.
Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)
120x
All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.