Hi Steve, If my insurance doesn't want to pay for my delition/duplication test. Can I do it directly with Ambry or I need a doctor's referal?? How much does it cost?
It looks like all they found was deltaF508, no 5T, so she is just a carrier. The other variant is R75Q which is not a disease causing mutation, I hope that helps.My daughter's full gene squencing came back...but its confusing...
A little history is that we had a son (Xander) pass away at 14 months due to CF complications (he had DF508 and a 5t 12tg variant) we assumed since my daughter has shown CF ish symptoms hers would be the same (same parents) but they aren't...
Here is what hers says :
(1) Positive, predicted to be deleterious: A heterozygous deletion of CTT at nucleotides 1653 to 1655 resulting
in an in-frame deletion of phenylalanine at codon 508 in the CFTR gene (c.1653_1655 delCTT; p.Phe508del).
(2) Variant of uncertain significance: A heterozygous change from G to A at nucleotide 356 resulting in a
change from arginine to glutamine at codon 75 in the CFTR gene (c.356 G>A; p.Arg75Gln).
This individual was found to have 7/9 poly T's and 10/11 poly TG's in intron 8 (non-pathogenic)
Two changes from the “normal” or wild type sequence of the CFTR gene were detected in this sample.
Any ideas as to what this means? I knew if hers read like baby Xander's then sorta I knew what to expect but no idea here...and we dont see her CF doc for 3 more weeks so any insight would be most helpful...thank you