What does the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Test - CFTR blood test mean? Get a free analysis of your blood test now. Here's what you get with our free analysis:
The CFTR test is a genetic test used to detect mutations in the CFTR gene, which is responsible for cystic fibrosis (CF). This test is typically performed to: 1. Diagnose CF in individuals with symptoms 2. Screen newborns for CF 3. Identify carriers of CFTR mutations 4. Confirm a diagnosis in individuals with borderline sweat test results 5. Determine the specific CFTR mutations present in an affected individual 6. Assist in prenatal testing and family planning The test helps healthcare providers understand the genetic basis of CF in an individual, which can guide treatment decisions and provide information about disease prognosis.
The CFTR test does not have a ‘low’ reading in the traditional sense. Instead, results are reported as:
A ‘negative’ result does not necessarily mean the person doesn’t have CF or isn’t a carrier, as the test may not detect all possible CFTR mutations. Interpretation should be done by a healthcare professional or genetic counselor.
The CFTR test does not have a ‘high’ reading. Results are typically reported as positive, negative, or inconclusive. A ‘positive’ result means that one or more CFTR mutations were detected. This could indicate:
The significance of a positive result depends on the specific mutations detected and should be interpreted by a healthcare professional or genetic counselor in the context of the individual’s symptoms and family history.