Cystic fibrosis can be detected through newborn screening tests, typically done within the first week of life.
Some countries have a mandatory screening program for all newborns, while others have a targeted screening program for newborns considered at high risk for cystic fibrosis based on family history or other factors.
In addition, cystic fibrosis can be diagnosed later in life if symptoms develop. A diagnosis may be made in childhood or adulthood through a combination of tests including:
- sweat test
- pulmonary function test
- genetic testing
- Sinus X-rays
- Lung function tests
- Intestinal current measurement (ICM)
- Nasal potential difference (NPD)
- Sputum culture