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Tests and diagnosis

By Mayo Clinic staff

Laboratory tests

  • Newborn screening test. Within the past decade, most states have begun to routinely screen newborns for cystic fibrosis. This test checks a blood sample for a particular component that is commonly elevated in babies who have cystic fibrosis. Other tests are needed to confirm the diagnosis.
  • Sweat test. This test is necessary to confirm a diagnosis of cystic fibrosis. A sweat-producing chemical is applied to a small area of skin, which is then stimulated with a very weak and painless electric current. The collected sweat is then tested to see if it's saltier than most people's sweat.
  • Genetic testing. If the sweat test results aren't clear-cut, DNA samples from blood or saliva can be checked for specific mutations on the gene responsible for cystic fibrosis.
  • Sputum tests. If it appears that you have a lung infection, your doctor may ask you to cough up a sample of the mucus (sputum) so it can be tested to see what types of germs are in it. Your doctor can then choose an antibiotic that works especially well for that specific variety of germ.
  • Organ function tests. During the course of cystic fibrosis treatment, your doctor may order blood tests that help measure the health of your pancreas and liver.

Imaging tests
Damage to your lungs or intestines can be monitored with:

  • X-rays. This painless test can reveal overinflation of the lungs and clogged bronchial tubes or sinuses.
  • Computerized tomography (CT). CT scans combine X-ray views taken from many different directions to produce more detailed images of internal structures.
  • Magnetic resonance imaging (MRI). MRI machines use radio waves and a strong magnetic field to produce very detailed images of internal organs.

Lung function tests
These tests measure:

  • The size of your lungs
  • How much air you can breathe in and out
  • How fast you can breathe in and out
  • How well your lungs deliver oxygen to your blood
References
  1. What is cystic fibrosis? National Heart Lung and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_all.html. Accessed Dec. 9, 2009.
  2. Welsh MJ. Cystic fibrosis. In: Goldman L, et al. Cecil Medicine. 23rd ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/das/book/body/175336803-3/0/1492/366.html#4-u1.0-B978-1-4160-2805-5..50094-X_3680. Accessed Dec. 11, 2009.
  3. Boat TF, et al. Cystic fibrosis. In: Kliegman RM, et al. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/das/book/body/175336803-3/0/1608/945.html#4-u1.0-B978-1-4160-2450-7..50402-3--cesec14_7740. Accessed Dec. 11, 2009.
  4. Katkin JP. Cystic fibrosis: Clinical manifestations and diagnosis. http://www.uptodate.com/hme/index.html. Accessed Dec. 11, 2009.
  5. Cystic fibrosis. Genetics Home Reference. National Institutes of Health. http://ghr.nlm.nih.gov/condition=cysticfibrosis. Accessed Dec. 11, 2009.
  6. What is bronchiectasis? National Heart, Lung and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/brn/brn_whatis.html. Accessed Jan. 4, 2010.
  7. Simon RH. Cystic fibrosis: Overview of the treatment of lung disease. http://www.uptodate.com/home/index.html. Accessed Dec. 14, 2009.
  8. An introduction to postural drainage and percussion. Cystic Fibrosis Foundation. http://www.cff.org/UploadedFiles/treatments/Therapies/Respiratory/PosturalDrainage/An%20Introduction%20to%20Postural%20Drainage%20and%20Percussion%201-2006.pdf. Accessed Dec. 14, 2009.
  9. Airway clearance techniques. Cystic Fibrosis Foundation. http://www.cff.org/treatments/Therapies/Respiratory/AirwayClearance/. Accessed Dec. 14, 2009.
  10. Baker RD, et al. Cystic fibrosis: Nutritional issues. http://www.uptodate.com/home/index.html. Accessed Dec. 14, 2009.
  11. Wenstrom KD. Cystic fibrosis: Prenatal genetic screening. http://www.uptodate.com/home/index.html. Accessed Dec. 14, 2009.
DS00287 March 2, 2010

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