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.
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...