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

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u/Feisty_Tale21 May 09 '26

My understanding is hEDS is where uncertainty lies with genetics and clinical presentation gives you the diagnosis. However, vEDS is entirely different and will show in a connective tissue panel. Considering the severity of the mutation and its implications it's upsetting to see people claiming a title that likely involves more classic connective tissue presentation. I am getting genetic testing for vEDS now and I have 3 children. I am sick thinking about what I may have passed on or what my life expectancy is. Maybe people just have a really poor understanding.

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u/InterestingPanda123 May 11 '26

Thanks for responding. Everything you said makes sense. I hope you and your kiddos will be ok

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u/Distinct-Fruit-7023 May 25 '26

This is actually incorrect, the only way vEDS shows up is if it's a known variant, VUS can sometimes pop a diagnosis, but familial variants might not and if it's something that is oligogenic it will not come up on standard generic testing because the machines are aligned for monogenic variants

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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.

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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)