Recent content by Mdl123

Ok spoke to Dr., even he is not entirely sure what the results mean. I need to wait for sweat test and a referral. I will have to be patient and try not to worry. I suspect there is a potential CF gene not one of the 50 already tested.

I don’t know that’s all fine the info I have.

Thanks for your message. I really appreciate it. I’m still very confused. I’ve been living on the internet trying to understand what this means. I wish my Dr would return my calls this is killing me.

Hello. My son had a positive test as heterozygous for R117h. The patient was also found to be be homozygous for the 7t variant of the polythimidine tract. I'm really confused. Does this mean he had two genes for R117h of the 7t variant or is there two variations of some aspect of the gene. I...