Samples must be received within 24 hours of collection. This test must be ordered using a DNA test request form. The DNA sample indicates the presence of the D F508 mutation. The DNA sample does not have the D F508 mutation. Heterozygous individuals are at least carriers, but may be affected if they also carry one of over 800 reported CF mutations not tested by this assay.
Risk calculations are dependent on race and family history.
Specificity may be compromised by PCR primer site mutations. About half of individuals with CF will have two D F508 mutations. If there is a positive family history of CF, please provide information regarding the relationship of the proband to the individual being tested. Due to the unique nature of genetic testing, patients should receive genetic counseling and give informed consent before DNA testing. Informed consent forms are available from ARUP upon request.