Topics

Hyperchogenic bowel
I am 39 years old and mother of a 20 month old boy by IVF. The test for CF was negative. Today I am 23 weeks pregnant and after the second level ultrasound a hyperechogenic bowel was found. My doctor recommended amniocentesis. Is the hyperechogenic bowel on its own an indication for Down ...
17.12.2013
Modifier genes
Hello, could you tell me what are the cystic fibrosis modifier genes? Do we know how to identify them if necessary? If yes, could you give me some examples of modifier genes? Thank you
16.12.2013
Cystic Fibrosis
Hello, after a pancreatitis, my 10- year-old son has been diagnosed with cystic fibrosis. He never had bronchitis. Sweat tests values are 55 and 50. The N1303K mutation was identified. His lungs, will they necessarily be damaged? Can people live with pancreatic insufficiency? Thank you very much ...
09.12.2013
R117H negative for 5T
My husband and I are both carriers of identical strains. R117H negative for 5T. Are there any documented cases with this combination and what CF symptoms developed. Our son has both genes.
02.12.2013
508 r117h T5
My grandson has recently been diagnosed with CF. His details are 508 and r117h T5. Sweat test 47. What CF symptoms will develop? Also - what medication will be available in the near future which may address the symptoms? Thank You
02.12.2013
How confident is the genetic testing
Hello, I have a 13-year-old daughter. The sweat test had been pathologic according to the report from the hospital. She has had a value of 66. After that, a genetic testing had been performed. This was negative. How confident is it that she does not suffer from CF. Best regards,
02.12.2013
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
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