genetical tests

Question

Genetical tests were done in the whole family in 1992 without assessment of mutations. One mutation was detected in a sick child (F508 and R553X). Is it possible to assess this mutation in the second daughter in connection with the fact, that she was diagnosed as being a carrier? Regarding the second daughter's family planning: is it possible to assess mutations in her partner? What should be done in such situation?

Answer

Dear Questioner,
If I understand your case right, your child suffering from CF has been diagnosed to have two CF mutations on each gene, namely F508 and R553X, which is quite a frequent finding in all the possible CF mutations. Therefore, for the family planning of your second daughter, it is possible and advisable to do a genetic test on her in order to find out if she carries one of those genes. In order to get an information of the risk of getting a child with CF, her partner can also be screened for CF mutations; here the situation is a bit more complicated, as tests only cover a certain panel of mutations; not all but many possible mutations can be excluded.
In order to receive not only reliable, but also compatible with current medical knowledge opinion you shoud contact a genetician. You can ask for advice either prof. Tadeusz Mazurczak: Dept. of Medical Genetics, Mother and Child Institute, 17a Kasprzaka str., 01-211 Warszawa, phone +48 022 632 96 57 or prof. Michał Witt: Dept. of Human Genetics, Polish Science Academy, 32 Strzeszyńska str., 60-479 Poznań, phone: +48 61 823 31 87.
Best regards, Natalia Kobelska-Dubiel, MD, PhD

03.02.2009