I am starting my pregnancy and according to the doctor’s suggestion I and my husband were tested for >98% of CF mutations at Horemio. The results show that I have a change at the sequence T854T and my husband two changes at the sequence 1716G/A and 4521G/A. I would like to know if the baby ...
Monozygote twin - CF testing
Without any history of CF in our families, we decided for my husband to get tested for 89% of the CF mutations. Given the fact that he has a monozygote twin, who does not have children yet, we believe that, due to almost identical DNA, the genetic testing will cover him as well. Is this true? Can ...
genetic testing
I wish to have a second child. I was tested for 90% of the CF mutations and I was found to be heterozygote for c.443T>C. I do not carry any other mutations. Can I start trying to have a child, or must my husband get tested as well. There is no family history. Thank you!
Non pathogenic polymorphisms
My husband was tested for 89& of the CF mutations and no pathogenic mutation was detected. However, three non pathogenic polymorphisms were detected. Why are they in the report, since they do not cause CF? What is their role?
Is the new medication Ataluren appropriate for administration for the mutation G126D?
p.Ala120Thr mutation
During the 9th week of my pregnancy I was checked for 89% of the CF mutations in the CFTR gene. The results were positive for the mutation p.Ala120Thr (c.358G>A, rs201958172). After the recommendation of my gynecologist my husband was checked for the same percentage of CF mutations in the CFTR ...
Hello, my 3-year-old daughter has had several anal prolapses. She has quite some mucus in her throat up to 3 weeks after her colds. The sweat test was negative (27 nmol/l for the measurment of conductivity), regular stool elastase (over 500) and 50 mutatios in the test were negative. The mother ...
Which mutation has more need for therapy?
Dear expert team, my son (4 years, CF) has the following known mutations: delF508 (inherited by me) and on the other allele R1070Q-S466X. The R1070Q is a missense mutation, the S466X is a nonsense mutation. In case of this rare combination, a marked pancreatic insufficiency has to be expected, ...
Mutation update?
In the year 2003 my genotype had been confirmed to be compound-heterozygous for the mutations DF508 and 405+1G->A. At that time, about 1300 mutations were known. Today the number is about over 2000. Would it be sensibel to have a new mutation update done after 10 years? It seems to be ...
Negative CFTR gene
Dear, If I have a negative CFTR gene sequencing and a negative sweat test, am I negative for Cystic Fibrosis? Although the symptoms (constipation, polyps in the nose, transparent and thick mucus in the nose?) My daughters have also symptoms (one with dwarfism and constipation, the second ...
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