Topics

7T and 9T genetic carrier?
Dear expert team, I received a normal result from a gene test. The assessment states “heterozygous for 7T and 9T (normal alleles).” Does this mean I am genetically healthy or a genetic carrier for CF? Many thanks for your help.
27.11.2013
Diagnosis? Addition!
My grandson has the following result of the genetic tetsing: heterozygous TG10/TG12 and heterozygous for the 5T variant IVS8:TG12-5T/TG10-7T in the poly pyrimidin-tract. We have been told that a CF could be excluded to 90%. However, what about the meconium plug at the beginning and then about the 3 ...
20.11.2013
Mild cystic fibrosis
What is the incidence of a mild cystic fibrosis? Is the prognosis for survival concerned? What is the future? (My daughter is 8 years old).
18.11.2013
Mild form
Hello, my 8-year-old daughter was diagnosed to be heterozygous for the Delta F508 and heterozygous for the complex allele TG12 T5. Which evolution, which prognosis for the future can be expected, knowing that she already has respiratory (asthma) and digestive (flatulencies, constipations) problems. ...
18.11.2013
Daughters CF test
We recently received a "presumptive positive" result for our newborn daughter's CF test, with a result of "Heterozygous (R117H, 7T/7T)" and an IRT level of 52. Having read a little about this specific mutation, it seems possible that she might simply be a carrier, and may never show symptoms. Can ...
11.11.2013
R117H 7T/7T Heterozygous
Hello - My 2-week old daughter is heterozygous R117H 7T/7T. What are her risks of having CF? IRT is low, and sweat test is coming next week. Thank you.
11.11.2013
R117H
My husband was recently diagnosed positive for one copy of the R117H mutation (R117H heterozygote, homozygous for 7T). He was negative for the 5T variant. We plan to have genetic counseling. What exactly does this mean for him and for us if we have children?
11.11.2013
genetics
what means c.2183AA>G Thank you
04.11.2013
Borderline sweat test results/genetic testing
Hello, I am a woman of English descent living in Finland and my family has a history of cystic fibrosis. I have a history of nasal polyps, recurrent pancreatitis, recurrent sinus infections and intestinal ileus. I also have a fatty liver and pancreas divisum. My gallbladder was removed because of ...
04.11.2013
Diagnosis?
My grandson’s gene test yielded the following result: Heterozygous TG10/TG12 and heterozygous for the 5T variant IVS8:TG12-5T/TG10-7T in the pyrimidine tract. We were told there is a 90% chance that cystic fibrosis can be ruled out. But what about the meconium plug at birth and then the ...
04.11.2013
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