What are the chances of a mistake being made on the genetic test?

J

JustaCFmom

New member
:confused: I have had the weirdest experience this past week.

My 4 yr old (no CF) had bronchitis in august and now another lung infection in january.

I went to a pulmonologist [(the same one who ultimately sent my big daughter to do the sweat test, and, as the saying goes, "the rest is history")] at the start of jan. (before the infection?) and he started her on singulair, which helped her cough a lot. when I went back b/c the cough wasn't 100% gone, he added flixotide (cortisone). The cough got worse and we ended up doing penicillin. Went back for follow up and he gave me a referral for a sweat test.

This has totally confused me. We did all this last year and her results said she isn't even a carrier. What are the chances of a mistake?? Would you bother doing a sweat test for her? right now she is being treated as asthmatic.

Thoughts?

Thanks!
 
P

Printer

Active member
A sweat test is not a genetic test. The sweat test that is done at a local hospital is not the same sweat test that is administered at a APPROVED CF CLINIC. You know the drill. take her to the same CF Doctor that your other kids see.

Bill
 
J

JustaCFmom

New member
Thanks for answering Bill!

Sorry if I wasn't clear. Her sweat test results were not conclusive, but the genetic blood test said she isn't even a carrier.
Ultimately, I did take her to our CF doctor and he didn't see a need to repeat the sweat test for her. I still have the feeling of "Maybe someone made a mistake with the blood test"?

We are treating her as asthmatic & allergic...
 
P

Printer

Active member
As you know there are almost 2000 known mutations any 2 will cause CF. The genetic test that she was likely given was for 39 mutations. Given the Family History this CF Doctor should order a FULL CF SEQUENCING. If he/she won't order it, go to another CF Center and have it done there.

Your DD's health is the issue here, not the Doctor's ego.

Bill
 
P

Printer

Active member
As you know there are almost 2000 known mutations any 2 will cause CF. The genetic test that she was likely given was for 39 mutations. Given the Family History this CF Doctor should order a FULL CF SEQUENCING. If he/she won't order it, go to another CF Center and have it done there.

Your DD's health is the issue here, not the Doctor's ego.

Bill
 
J

JustaCFmom

New member
You see how background info is so important! I forgot to mention my 3 other kids WITH CF!

We screened the entire family and we know the mutations involved, so full screening wouldn't even be necessary in this case.

My question is that since NO mutations were found, should I question those results? Do I repeat the sweat test to rule out human error? What are the chances of human error with the genetic screening?

I don't even know who to ask - part of the reason I am asking here...

Thanks!
 
P

Printer

Active member
Yes!!! Did they do a match of your family's known mutations or did they do a "standard" 39 or 100 most common mutations? A CF Doctor that I had, in the past, did say that the "newborn" screenings do have "false" results. If you and Hubby are both carriers, there is only a 25% chance that DD does not have at least 1 mutation, 75% that she does. Push your CF Doctor.

I would only deal with your CF Doctor. The world is full of Doctors who can't even spell CF, much less DX or treat it.

Bill
 
B

briarrose

New member
I would talk to your CF doctor about what's going on and see if s/he would refer your 4-year-old for another blood test to test for your two known mutations. I do know of at least one case where the family knew what mutations were involved, but the lab tested for the WRONG ONES. Better to make sure that everything was done correctly because then you'll know, and it's just a quick blood test.
 
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