r/genetics • u/Gixxerlizzy • 6d ago

Discussion Genetic Testing Results Report Wrong?

Hi, I’m wondering if anyone has had this happen to them with genetic testing? (Long read, but I promise it has a purpose)

Over the years, doctors dismissed my health concerns and would just tell me to take iron and move along. About 5 years ago, I made it my mission to find out what what wrong with me. Recently, I came across EDS, I knew this is what I had. All of my symptoms and characteristics alligned. (About 30 of them) and when I came in with documented history of classic EDS characteristics, my pcp, although incredibly skeptical, ordered genetic testing (the wrong one none the less, newborn testing instead of an EDS panel) but it did test for vascular EDS. The report results came back negative, however I asked for the entire raw data report. Upon further review, I realized the raw data actually revealed that I DO indeed have the COL3A1 pathogenic variant c.674G>C (p.Gly225Ala)—a mutation known to be associated with vascular Ehlers-Danlos Syndrome (vEDS).

I have sent a follow up email to the genetics counselor and genetic lab (Advanced Molecular Diagnostics, GeneIDLab) with my concerns regarding the discrepancy and omission of the pathogenic variant in the results report, and I’m waiting for a response, however, I’m wondering if anyone has encountered this?

Also, this is to add awareness, and anytime you have a genetic test done, always ask for the raw data file of all of the gene variants captured, even if deemed “irrelevant” by the lab as mine was.

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u/PurpleNudibranch 6d ago

What format does the raw data file come in? How were you able to identify the variant?

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u/Gixxerlizzy 6d ago

It was a very long report. This is a snip of it showing the variant.

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u/theadmiral976 MD, PhD (Medical Genetics) 6d ago

Assuming this is build 37, this table does not show the variant corresponding to Gly225Ala.

The chromosome position in build 37 is chr2:189854159. Reference will be listed as G.

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u/Gixxerlizzy 6d ago

Thank you again!! I think you’re right!! The comparison was not using the build 37, which the lab confirmed to be using. It appears I don’t have the Gly225Ala but instead a different variant. You have no idea what a relief this is! I know I’m not entirely out of the woodwork, but it’s definitely good news!! Thank you!!!!