Genetic test

Question

Hello, My boyfriend has cystic fibrosis. We would like to know wether I am or not a carrier of the mutated gene before considering to have a baby. We looked on the internet and apparently I should do a blood test, but where can this test be done?

Answer

Hello,
Indeed, to find out if you are you and your boyfriend a couple at risk of transmitting cystic fibrosis to your offspring, it is necessary for you to search for a mutation in the CFTR gene.
This research can be done on a blood sample by a laboratory of molecular genetics. There are thirty laboratories in France able to identify the 30 most common CF causing mutations; they work closely with 4 national expert laboratories able to identify rarer mutations.
I suggest you to contact your boyfriend's CF Center to get the contact information of the nearest molecular genetics laboratory.
The results of this test will be given to you during a medical genetics consultation during which you will have the opportunity to ask questions and get precisions on the risk of transmitting the disease to your offspring. This risk is very high (1 of 2 in each pregnancy) if your spouse has cystic fibrosis and you are yourself carrying a CF causing mutation. It is against virtually zero if your test is negative (the risk is not completely zero, because there are still very few causing CF mutations that we can not detect, yet).
As you may be aware, men with CF are frequently sterile despite normal sexual activity. Therefore, it would be helpful to come as a couple for a consultation at your boyfriend's CF Center in order to discuss the possibility of assisted reproduction (ICSI) in the case of a proven sterility of your spouse.
Hpoing to have answered your question.
Sincerely,
Dr. Gilles Rault, CRCM Roscoff

07.10.2013