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Keywords
- ABPA_Aspergillus
- accompanying diseases
- air-improving devices
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Topics
- Mutations L206W and S1251N
- Hello, I'm 26 years old and I have no symptoms of cystic fibrosis but these two mutations (discovered after diagnosis of CF in my two children). What do we know about these 2 mutations L206W and S1251N?
- 27.02.2016
- Mutations p.Gly542X and c.371del
- Hello, Our daughter (soon 2½ years) was diagnosed to have CF following a Newborn screening test. After investigation of the CFTR gene she was diagnosed to be compound heterozygous for mutations p.Gly542X (mutation from her father) and c.371del (mutation from her mother). What do you know about ...
- 27.02.2016
- Research
- Hello, May I ask you whether regarding the current level of research (+ 1900 identified mutations and the importance of modifier genes) a study on the mutation and modifier genes that parents passed, would not be a source of useful information for the development of a treatment adapted to the ...
- 01.02.2016
- life expectation of CF nowadays
- My son is born in 2015 with the classical form of CF. What is the life expectation of a CF patient born in 2015?
- 01.02.2016
- 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
- 01.02.2016
- 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 ...
- 01.02.2016
- 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 ...
- 28.01.2016
- querry
- 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 ...
- 14.01.2016
- 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 ...
- 22.12.2015
- 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!
- 22.12.2015
