No, this test does not identify all mutations in the CFTR gene. Several hundred disease-causing mutations have been identified in the CFTR gene. However, the majority of cystic fibrosis cases are caused by the select few in this disease panel.
This DNA test identifies 39 disease-causing mutations in the CFTR gene. This is by no means an exclusive list of disease-causing mutations in the CFTR gene. However, these are the most common mutations, especially in Ashkenazi Jewish populations where just nine of these mutations account for 99% of all cystic fibrosis cases.
The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator that controls the movement of salt within the body.
Cystic fibrosis is caused by mutations in the CFTR gene. CFTR encodes a regulator that controls the movement of salt within the body. Mutations in this gene result in extra salty sweat, thick sticky mucus in the respiratory tract and thick digestive fluids.
Cystic fibrosis is a common inherited disorder affecting Caucasians worldwide. Approximately 1 in 25 Caucasians carry one defective CFTR gene (and are unaffected). Cystic fibrosis occurs in people with two defective CFTR and this occurs in 1 in every 2500-3500 Caucasians. Cystic fibrosis is less common in other ethnicities.
Cystic fibrosis is an autosomal recessive condition, which means that people who suffer from the disease must inherit a defective CFTR gene from each parent. Children of an affected parent will definitely inherit one defective gene from that parent, but they may be unaffected if they inherit a normal CFTR gene from their other parent. If [...]
You can choose to receive your results report by mail, email or both. The test includes one copy of the results by mail and one copy by email at no charge. The results report is issued immediately once the testing is completed.
Yes, your results are 100% confidential. No one will be able to access your account or your results unless you give them your confidential account login. You can change the password to your account at any time. Please remember to safeguard your login information and not share it with anyone.
The DNA testing kit does not have an expiry date so you can use the kit at any time. Once the DNA sample is collected, the sample should be returned to the laboratory for testing within 3 months of the collection date. The DNA sample will remain stable for 3 months at room temperature after [...]
If your sample contains intact DNA, then a full DNA profile will be obtained. However, if your sample does not contain DNA or contains degraded DNA, then only a partial profile or no profile at all is obtained. Even if no profile is obtained, the cost still applies for each sample that is submitted.