There are different methods used to diagnose cystic fibrosis.
- A chloride sweat test is one of the methods used to diagnose cystic fibrosis. A small electrode is placed on the skin to stimulate sweat production. The amount of chloride (a component of salt in the sweat) is then measured. A chloride concentration greater than 60 mEq/L in sweat on two separate occasions is diagnostic of CF.
- Nasal transepithelial potential difference (NTPD or NPD) testing can be used to assess the function of the cystic fibrosis gene product, a chloride channel called cystic fibrosis transmembrane conductance regulator (CFTR). Certain measurements are characteristic of CF.
- Clinical genetic testing for CF looks for mutations in the CFTR gene that cause the condition. CF is an autosomal recessive condition and as such, it is generally necessary to have two mutations, one in each gene copy, to be affected with the disorder.
We recommend that you meet with a medical geneticist for evaluation and to discuss your symptoms, Marfan syndrome as well as the benefits and limitations of genetic testing. You can find a medical geneticist at the American College of Medical Genetics website. We wish you the best.
Thank you for the information.
They identified the elevated enzyme level through a blood test. Is this the test you were talking about or is there another test?
Thanks
Andre