TESTING FOR CYSTIC FIBROSIS. Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Blood tests. Two tests can give your doctor a clue about hemochromatosis: Transferrin saturation. This shows how much iron is stuck to transferrin, a protein that carries iron in your blood. Serum ferritin. This test measures the amount of ferritin, a protein that stores iron, in your blood.
Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward.
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.