CF Screening

Question

Hello,
I’m writing to get some information about CF gene screening.
My girlfriend has a family relative with CF and as far as I’m concerned I’m not aware about such a case among my relatives. It doesn’t prevent us from having a chance to have a child with CF if we are both carrier.
In doubt, we would like to perform a test to check if we are carriers of this gene, but we are looking for information on the procedures to do it.
Could you guide me on the steps / organizations to contact / rules to perform these tests?
Cordially

Answer

Hello,
I suggest you make an appointment with a geneticist (there is one in each University Hospital) to get information about:
• the mutations found in the CF parent of your friend
• the risk that your friend carries a CF causing mutation on the CFTR gene: the risk depends on the degree of kinship with her CF relative;
• the risk you are yourself carrying a CF causing mutation ;
• the relevance that your friend, you or both perform the test.
If you decide to perfom the test, the geneticist will be able to prescribe you a simple blood sample that has to be sent to a laboratory accredited for searching CFTR mutations.
Hoping to have answered your questions.
Cordially.
Gilles RAULT, MD

17.12.2013