Negative gene sequencing and negative sweat test
Can you rule out cystic fibrosis with a negative gene sequencing and a negative sweat test? Is the sequencing reliable and able to rule out the disease in a child? Thank you very much
Intermediate sweat test
Hello, I ask myself a lot of questions after reading one of your answers to a subject. You said in this response that the sweat test should be less than 30 µmol/l. My 16-months-old daughter has CF (diagnosed at 1 month) with a DF508 mutation and another mutation of class 5 G3272-26A and a sweat ...
Human genetics
Hello, I, my husband and my daughter have been investigated for Del F 508 , Del I 507, Del TA 1677 , Del 21 kb. In my husband and my daughter (4 yrs) Del F508 have been found, nothing has been found in me. How does this influence the prognosis and further therapy? How necessary and sensible is ...
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 ...
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