CFTR gene sequence and deletion/duplication analysis
Use
Cystic fibrosis (CF) is characterized by pulmonary disease, pancreatic insufficiency, elevated sweat chloride levels, and male infertility. Ambry Genetics offers this test to confirm a diagnosis of CF in individuals with known or suspected diagnosis based on symptoms, as a carrier screening for those at increased risk, and to confirm a diagnosis in pregnancies at increased risk. This test helps detect mutations in the CFTR gene, which are responsible for CF.
Special Instructions
Family variant testing is offered at no additional cost for all blood relatives of patients who undergo testing and are found to have pathogenic variants, within 90 days of the original report date. This is only available for patients receiving care in the U.S or US territories.
Limitations
The clinical sensitivity of CF genetic screening depends on the test ordered and the ethnic background of the patient. Gene sequencing and deletion/duplication analysis can detect mutations in 99% of people with a clinical diagnosis of CF, although limitations exist in detecting certain types of variants, including those in regions with pseudogene interference or insufficient read depth.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
5-13 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Causes for Rejection
Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant cannot be used for genetic testing. Blood/saliva from patients with active hematological disease is not recommended.