Doctor insights on:
Cystic Fibrosis Mutation
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
Confusing question: Your question is unclear. CF is caused by a mutation that is expressed as an autosomal recessive genetic disorder. What your question about it is vague at best.Please start over and be specific about what you are asking.Questions are not linked, so start over. ...Read more
Is there a resource out there that discusses the different cystic fibrosis gene mutations & which symptoms are associated with each one?
CF resource: http://www.cff.org/ Try this one!Get a more detailed answer ›
Newborn boy has a severe mutation delf508 and a 5-t gt12. Was told that he might or might not develop mild cystic fibrosis. How does mild CF manifest?
Varies: Mild CF can vary from recurrent sinus infections, recurrent pneumonia, pancreatitis, fertility problems. One may have no evidence of CF until adulthood. Sometimes the first sign is recurrent pancreatitis in the second or third decade of life. Usually growth is not impaired. ...Read moreSee 1 more doctor answer
Does a child have to inherit the same mutation from both parents in order to have cystic fibrosis?
Does my child have to inherit the same exact mutation from both parents in order to develop cystic fibrosis?
Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US.A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications.Emotional & phys. development depend on severity, time in hospital, complications.Morb. & mort.factors afect emotional,cognitive behavior. ...Read more
As a carrier: Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more
Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read moreSee 1 more doctor answer
I have family members with cystic fibrosis. Is it possible to start show the symptoms in my 20's?
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