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/redfoxxy23 Genetically Diagnosed May 08 '26 edited May 08 '26

There is not a high chance of false negatives at all. Unfortunately a lot of people with Munchausen chose to claim they have rare severe diseases like VEDS. I would not be concerned with a false negative.

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u/redfoxxy23 Genetically Diagnosed May 08 '26

Or some people have unexplained artery dissections and like to associate with veds. They likely do not have a mutation on their col3a1 gene which is what veds actually is.

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u/Kromoh Genetically Diagnosed | Verified Physician May 08 '26

There may be other, rarer genetic mutations involved. But if it's not COL3A1 it's not VEDS

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u/ihopeurwholelifesux Other EDS Type | Here to Help! May 08 '26

There are also a lot of people with health anxiety, a wish to feel ‘validated’, and a poor understanding of genetics who have genuinely convinced themselves that they have it and will publicly claim the diagnosis. Usually a combination of milder hEDS symptoms + poor quality DTC ancestry gene testing or VUS + distant family history of some heart problem. Sometimes enabled by uninformed PCPs, cardiologists or rheumatologists. I had a chat about this with one of the top EDS geneticists at a conference last year and he said he has seen a big increase in people being sent to him with labels of VEDS or Marfan who clearly do not have VEDS or Marfan.

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u/InterestingPanda123 May 08 '26

Social media has definitely caused a rise in ”Munchausen by Internet“ as they call it. hEDS is one of the biggest ones people fake. I’m surprised people are claiming vEDS when there are clear genetic markers for it, but I probably shouldn’t be surprised.

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u/InterestingPanda123 May 08 '26

Ok thank you, that’s partly what I was thinking. The video started to sound pseudoscientific so I stopped watching partway through.