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Is a full sequencing test enough to determine

L

Lety

Guest
I had a full sequencing test done a few years ago. My daughter is dd5508 and I have a lot of GI symptoms. Symptoms are not severe (I mention them on another thread) . I had a full sequencing test done 3 years ago and it came back with df508 (it was obvious I had that one since my daughter has it). I was told that I don't need to do the delete/duplication because the full sequencing is the most comprehensive test. If I had severe symptoms then I would need the delete/suplication. But even that my symptoms are not severe they are severe for me. Maybe my question is if delete duplication test is only for people with severe symptoms. thanks
 

Printer

Active member
It is most likely an insurance company issue, they don't want to pay for the delete/duplication. My feeling is, if you can afford to pay for it, do the test.

Bill
 

kyeev

New member
I had a full sequencing test done a few years ago. My daughter is dd5508 and I have a lot of GI symptoms. Symptoms are not severe (I mention them on another thread) . I had a full sequencing test done 3 years ago and it came back with df508 (it was obvious I had that one since my daughter has it). I was told that I don't need to do the delete/duplication because the full sequencing is the most comprehensive test. If I had severe symptoms then I would need the delete/suplication. But even that my symptoms are not severe they are severe for me. Maybe my question is if delete duplication test is only for people with severe symptoms. thanks

Full sequencing will pick up any deletion or insertion mutations.
For example, DF508 is a deletion mutation.
It will also pick up any larger intron/exon deletions or insertions (much more rare).

To answer your final sentence: No, severity of symptoms does not determine the type of genetic test (e.g. test for deletion/insertion/duplication). A full sequence covers everything.
 
J

John O

Guest
I suggest using Ambry Genetics in Cali. Google them and contact them they test for over 1000 mutations of CF. Most complete and accurate lab out there. They send you the blood tube and you get the blood drawn and send it back and results within 30 days. They also have experience with insurance. Good luck John
 
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