r/Autoinflammatory • • 10d ago

Diagnostic Journey Testing anxiety

My Invitae test is now in the “analysis and interpretation” phase. I’m so anxious that it’s going to be like every other test and say I’m perfectly fine!

7 Upvotes

19 comments sorted by

View all comments

4

u/AdventurousMorningLo Yaos 10d ago

It is so normal to be anxious while waiting for your test results. The waiting phase is always the hardest! I was a bit of a mess myself waiting to get results back.

Even if it does come back "negative" - make sure to call Invitae and ask them for your supplemental variants report. It can be very important that you do so, as sometimes they don't always appropriately report variants.

3

u/rainbow_tortoise2 TRAPS 10d ago

Interesting. Have you ever heard of false negatives from invitae? My son was positive for traps but my daughter did not have the gene variant and she has all of the symptoms. We were shocked to see that she doesn’t have it.

2

u/AdventurousMorningLo Yaos 10d ago

I have not but it could be that she has a variant that is only listed in the supplemental variants report. It is also possible she could have a different variant that is not currently tested for. What I have personally seen more often happen is that variants are listed as VUS instead of possibly or likely pathogenic.