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View Full Version : two copies of m470v (not one but two copies)



Shellee
12-03-2014, 02:20 PM
Hello, does anyone happen to have this mutation of two m470v. My 5 yr old was diagnosed at 3 for cf even though this mutation isn't suppose to be disease causing..
Famous words...I'm really tired of hearing that. Josiah my cfer has had pneumonia over a dozen times before age 3, 4 sinus surgeries, 2 picc lines hospitalitized 5 times last year, twice this year exacerbations every year �� we are now waiting for Ambry results, and as crazy as this sounds I really hope they find something. He's passed two sweat test, and he is pancreatic insufficient. He's on all the typical cf meds and treatment regiment. I was hoping to find Steve from Ambry Genetics on here to ask a couple questions..
Hope to hear some thoughts from someone soon

Thanks
Shellee

SarahAGC
12-08-2014, 02:01 PM
Hi Shellee,

My name is Sarah and I am a genetic counselor from Ambry Genetics. I actually checked on this particular variant earlier today and it is still currently classified as not disease causing but we do have a clause at the end of the report that says "but this may cintribute in unknown ways to the ultimate phenotype". I am sorry that that is not the answer you are looking for as far as the classification goes, but if we do find these variants in your son we will review them again to see if there is any other new data we can find. Let me know if there are other questions I can answer for you!

Thanks,
Sarah