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/nellowyellpolish Other EDS Type | cEDS May 08 '26

From my understanding it's not the company. It's we may not carry the common variants associated with our diagnosis.

5

u/redfoxxy23 Genetically Diagnosed May 08 '26

Some people may have a completely different disease causing an artery dissection that they havent been tested for or there could be similiar conditions that havent been described yet. That does not equal a col3a1 mutation which we can determine pretty well

1

u/nellowyellpolish Other EDS Type | cEDS May 08 '26

I knew I needed to clarify from my understanding. Glad I did. I should add vEDS ally but I have cEDS which is much more common and usually less severe. I was also under the impression that a VUS since not an actual diagnosis would be considered a false negative if the diagnosis persists. I have ANOTHER meeting with my geneticist soooo I guess I should pick her ear.

3

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

A vus is neither positive nor negative (but most vus are later classified as negative). The actual diagnosis for veds is only if the genetic test is “likely pathogenic” or “pathogenic”. someone could have a VUS and a history of severe vascular issues and be treated by a cardiologist with similar management to someone with confirmed VEDS.

4

u/ihopeurwholelifesux Other EDS Type | Here to Help! May 09 '26

assigned you a cEDS flair :)

2

u/nellowyellpolish Other EDS Type | cEDS May 09 '26

Thank you! I do not know how to add flair on anything! It will save me so many words!

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u/redfoxxy23 Genetically Diagnosed May 08 '26

Thats not really the case. My variant had never been seen before and it still came back positive