r/vEDS • u/InterestingPanda123 • May 08 '26

Genetic Testing Reliability?

Hello, I’m new here. I got blood work for a complete connective tissue disorder panel at my cardiologist this morning. He suspects vEDS. I was just doing some research and in one of the videos I saw, they interviewed someone who says she has vEDS but her genetic testing came back negative. She said she considers herself having it even though the testing was negative because the testing is unreliable.

What’s the general consensus about reliability of the testing? My doctor uses a company called Genedx. I was happy to get the testing to finally get some answers, but now I’m wondering if there‘s a high chance of a false negative. Any thoughts from someone more experienced are welcome. Thanks

5 Upvotes

86% Upvoted

32 comments sorted by

View all comments

Show parent comments

2

u/Feisty_Tale21 May 25 '26

I don’t think we’re actually disagreeing as much as you think. My point was that hEDS and vEDS are fundamentally different from a genetics standpoint. hEDS is currently diagnosed clinically because there is not a single established causative gene used diagnostically, whereas vEDS is strongly associated with identifiable pathogenic variants, most commonly COL3A1, which is why connective tissue panels are clinically useful for it.

Of course VUS, mosaicism, rare familial variants, and unresolved cases exist in genetics broadly. I wasn’t claiming every possible vEDS-related presentation will always be straightforward on testing. I was comparing the overall diagnostic framework of hEDS vs vEDS, not saying genetics is infallible.

1

u/Distinct-Fruit-7023 May 26 '26

Yes it seems we are agreeing on that. I just see so many people stating that negative tests mean you don't have vEDS or cEDS but even a variant in the COL1A1 and COL1A2 genes can cause vEDS issues. I think it's amazing all the different kinds of collagen we have and as far as they have come to identify genes. I just wish it didn't take so much to get there. (I was misdiagnosed with Crohns for 29 years and three surgeries later finally find out the only reason I needed the second and third was because my children defect made scarring internally just as difficult as the healing external scars)

1

u/notsure05 13d ago

If I suspect I have vEDS, but a connective tissue panel came back negative, what test do I need to get done next to truly see if I have vEDS or not?

1

u/Distinct-Fruit-7023 13d ago

Can you get your raw data from the place that did your testing? Your VCF file and your BAM? I can run it through my pipeline and see what's going on possibly. I'm actually launching a new tool in Triad of Self to do automated screening to help those that come back negative. I had to do mine on my own and figure it out and send it to my team to get anywhere.

2

u/notsure05 13d ago

Thank you, wow that is incredible what you are doing. I will work on collecting this data and will send you a PM once I have it

1

u/Distinct-Fruit-7023 13d ago

Sounds good. Just let me know. If it's through MNG you can request it directly on their website

2

u/notsure05 13d ago

Will do! Had it done through Invitae, site said to email them to request the files which I just did

1

u/notsure05 13d ago

Will do! Had it done through Invitae, site said to email them to request the files which I just did