Topics

Genetic testing of the parents recommended - why?
We recently got the results of the genetic testing of our baby - two different mutations. Now it says at the end, that a genetic testing of the parents, including counselling is recommended. Why? Actually it is clear, that she must have one mutation from me and the other from my husband. Is it ...
25.10.2011
CF yes or no?
Hello, my son (19 weeks old) has had a sweat test 3 times and it was pathologic 3 times. Now the final result of the genetic analysis is still underway. However, I got an intermittend report: Mutation 2183AA>G (HGVS- Nomenklatur: c.2051_2052delAAinsG,Exon 14, CFTR-Gen) in heterozygous form, ...
10.10.2011
Heterozygous mutation F508del with deletion exon 17a and b
Dear ladies and gentlemen, is there any research about the above mentioned mutations? Could VX770 be also helpful here? What does the above mentioned mutation mean? We have been told that our daughter (1 year) will be with the utmost probability compound heterozygous. Many thanks for your ...
10.10.2011
DF508 carrier
I am the mother of a 2,5 years old daughter. We know that she is a carrier of the DF508 mutation, as am I. My husband has been screened and is not a carrier for all the known mutations. Should I be worried about something? She attends kindergarten for the first time this year and has a runny nose ...
04.10.2011
f508del/g576A
My child carries the mutations f508del/g576A. The genetist, that traced them, has informed us that it is an atypical form of the disease, and the only probable issue may be a fertility problem. He did not recommend us to take any further action and he told us we would not have found it out if we ...
04.10.2011
genes
Hello, What kind of symptoms are associated with these two mutations: delta F508 and N1303K? Thank you very much to enlighten me.
20.09.2011
G542X & 2183AA mutations
I have an 8 months old baby with CF with the above mutations. What can I expect in the future from these mutations? From what I read on the Internet i am scared, but my baby looks just a normal one. When do the problems begin?
25.10.2011
Chorionic villus sampling (CVS)
Hello! My husband and I have a daughter with CF (mutation d508 and g551x). Now we are thinking about having another child. Which prenatal diagnosis is available? I read about chorionic villus sampling (CVS). Is CVS done or first an amniocentese? Can this sampling really be performed in ...
01.09.2011
Cystic Fibrosis and carriers screening
Hello, Why is it not done automatically as toxoplasmosis or rubella, a search for future young parents (no history in the family) that would check if they are carriers of the gene or not? I think it would be less expensive for the Health Insurance Coverage than paying a lifetime to care for a sick ...
01.09.2011
Mutation V470M homozygous
Dear expert team, My 5-month-old niece was diagnosed with the V470M homozygous mutation. Polymorphism: In3: c.274-179G>A (rs1429566)- homozygous In9: c.1210-13G>T (RS10229820)- heterozygous I have not been able to find any hits on the internet; I assume it is a rare mutation, since our ...
30.08.2011
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