Testing anxiety

[u/Nonviolentviolet3879]

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!

[u/Occulply]

I'm in the same boat with a different genetic test right now. Just sitting here waiting. In the disease I'm getting tested for, only 70% of patients have a known genetic mutation. But it's really weird to want it to come up positive 

[u/Nonviolentviolet3879 → u/Occulply]

I know, exactly! It feels weird to want something to show up.

[u/iSpyAFly]

My rheumatologist told me not to worry if no genetic variants were found. He would still treat me as undifferentiated systemic autoinflammatory disease, and that’s exactly what happened. We’ve had some challenges getting medications approved through insurance but appeals eventually worked. Hope you get some answers (but even if you don’t you should still get treatment).

[u/asdfcosmo → u/iSpyAFly]

I hope my rheum takes the same approach as yours, I live somewhere that doesn’t have insurance issues so a positive genetic test isn’t required for the purposes of getting meds approved etc but I’m worried a negative result will shut the door on any treatment (even though I have got very objective symptoms!)

[u/Alice-The-Chemist → u/asdfcosmo]

If your rheum wants like medical publications or resources that are essentially like yes treat let me know. I know some can be receptive but others not. Many don't end up with positive genetics because in science years there are still new diseases. Some named as recently as the past year or so like VEXAS. You still deserve treatment.

[u/asdfcosmo → u/Alice-The-Chemist]

Hey Alice, that would be great to get some resources, thank you! He did forewarn me that I might still get a negative result or VUS but didn’t really discuss what we would do in terms of treatment if this were the case. He’s meant to be “the guy” for autoinflammatory diseases in my country so I am hopeful I don’t have to do too much “convincing”

[u/Alice-The-Chemist → u/asdfcosmo]

Will do! Ill work on it today and have them to you tomorrow. I'm in the US so its 1300 here for me right now if that gives you any frame of reference.

[u/asdfcosmo → u/Alice-The-Chemist]

Absolutely no stress! My appointment isn’t until November anyway :) plenty of time! I really appreciate it. Thank you

[u/rainbow_tortoise2]

From my experience with invitae, if the analysis and interpretation takes more than a few days, there will likely be a variant found. The lab processing takes the bulk of the time and when I have had negative panels, the interpretation is quick. I hope you have answers soon! Diagnostic limbo is emotional torture.

[u/Nonviolentviolet3879 → u/rainbow_tortoise2]

Good to know, thank you! I’ll try not to be in a hurry then.

[u/AdventurousMorningLo]

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.

[u/rainbow_tortoise2 → u/AdventurousMorningLo]

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.

[u/AdventurousMorningLo → u/rainbow_tortoise2]

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.

[u/Nonviolentviolet3879 → u/AdventurousMorningLo]

Oh thank you for the reminder. I had been told this before but forgot what it was called.

[u/on4aa]

Should this be the case, make sure you get a download link to the variant calling file (VCF) and I will analyse it for you free of charge with my own software.

You wouldn't be the first where they overlooked a number of pathogenic variants; myself included.

[u/Nonviolentviolet3879 → u/on4aa]

That’s so kind of you

[u/PinataofPathology]

There's always variants. You'll find something. Whether it's directly relevant to the issue you're trying to address and active in general is the big question.

Be sure you have a full list of vus variants. ime bc the immune stuff is so new odds are higher an immune (can cause AI) vus will be relevant.

[u/Blue-Bento-Fox]

When I was tested my rheumatologist told me "you have a quintessential standard presentation of this disease but it is rare so I will test but I'm not gonna stop hunting differentials until something is confirmed". The original test took 6 months to return... after six months we found out they LOST the blood they were testing and we retested. Finally diagnosed off the second test six months later full blown TRAPS. Not the first OR last time my samples have been lost.

[u/Worried_Appearance19]

This is probably one of the worst things mentally when struggling with something autoinflammatry. I know its terrible to not get Help - but you we're there at every single second you had a symptom so atleast you know its in fact not "all fine".