Why get tested?
To detect cystic fibrosis (CF) genetic mutations to establish CF carrier status or to establish the diagnosis of CF in an individual; the American College of Obstetricians and Gynecologists recommends targeted gene screening when a couple is contemplating pregnancy or in early pregnancy

When to get tested?
When a newborn infant has meconium ileus (no stools in the first 24 to 48 hours of life) or when a person has symptoms of CF (salty sweat, persistent respiratory infections, wheezing, persistent diarrhea, foul-smelling greasy stools, malnutrition, vitamin deficiency or male infertility); if a person has a positive sweat chloride or IRT test or a close relative who has been diagnosed with CF; when a patient is undergoing genetic counseling for available prenatal screening tests and wants to find out if they are a CF carrier; or for prenatal diagnostic purposes when both parents are CF carriers

Sample required?
A blood sample drawn from an infant’s heel; a spot of blood that is put onto filter paper; or a blood sample drawn from a vein in the arm; buccal swab specimens may also be used