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CF- diagnostics
- Question
- Hello, my mum died in 2003 of CF. Where could a sweat test or genetic test be done? Is it paid by health insurance or by a patient? Thanks in advance
- Answer
- Hello,
if your mother suffered from the illness of CF, we can assume that she had two "CF-Mutations", one of those she will have inherited to you. So, if your father did not carry any "CF-mutations" or carried only one CF mutation that he did not inherit to you (we do not know if he underwent genetic testing), you are a carrier of one CF-mutation which you inherited from your mother and you are then a "healthy carrier", not suffering from the illness of CF. In this case a sweat test would show normal results, a genetic testing which could name the sole mutation that you carry would have no clinical consequences for you but could be of importance if you whish to have children yourself and your partner would also be a carrier, then a prenatal diagnosis would come into consideration.
In case there is any clinical suspicion, that you might yourself suffer from any form of CF (because your father was also a carrier and inherited the mutation also to you), the sweat test would show a positive result, but a "classical form" of CF can almost be ruled out until you do not have any symptoms. However, besides the classical from, there are milder forms of CF, with normal functionning of the pancreas and mild lung disease and even forms with only very distinct symptoms and late onset. In these cases the sweat test is often only boderline and other test, especially extended genetic analysis, have to clarify the situation.
In summary, if you do not have any sypmtoms at all and your father was healthy, the probability is great that you are a healthy carrier of one "CF-mutation" from your mother. Genetic testing is advaisable and this test is done from one blood take and will be preformed in the nearest genetic department. Please ask Your GP for finding such department. This test is paid by health insurance.
With all best, ...
Dr. J. Brázová and Dr. D. d'Alquen
- 13.12.2011
