CF Gene Mutation Testing

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 (ACOG) and the American College of Medical Genetics (ACMG) recommend targeted gene screening when a couple is contemplating pregnancy or in early pregnancy

When a newborn infant has meconium ileus 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 seen by an obstetrician for pre-conception counseling or an early prenatal visit or is undergoing genetic counseling for available prenatal screening tests and wants to find out their CF carrier status; or for prenatal diagnostic purposes when both parents are known CF carriers

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 or prenatal (amniocentesis or chorionic villus) specimens may also be used

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