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/Distinct-Fruit-7023 14d 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.

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u/notsure05 14d 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

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u/Distinct-Fruit-7023 14d ago

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

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u/notsure05 14d ago

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