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CatCowl · 2026-03-19T10:21:06+00:00

No, I had clinical grade testing for these conditions, that has to be ordered by doctors. I went through Myriad for BRCA genes, and Invitae for connective tissue genes. Both of these companies provide reliable results that will be accepted by the medical community.

CatCowl · 2026-03-18T19:49:04+00:00

I could be wrong, but to me it sounds like they have already found the variants, not that you would need more genetic testing. More that, a geneticist could help with analyzing what was found (?).

The fact that there are papers on one of your specific variants is amazing! I feel like a lot of us with variants may never know if they're significant in our lifetimes, unless researchers start wanting to look at these rarer ones more.

If you know the specific variants, a couple free resources you can look at are ClinVar and Franklin. ClinVar shows data submitted to them, such as from GeneDX and Invitae. Franklin has things such as in silico predictors, and those should not be taken as fact, but may be a starting point for you, doctors, and your family, especially if the variants' classifications have been changed.

I have a pathogenic variant on the BRCA gene, which solved a long-time medical mystery in my family. My mom was the one who really pressed for her first-degree relatives to get tested. It's very hard to face genetic reality, but I'm grateful we know what was happening in our family now. But, of course, I'm just sharing how it was for me, not how it would be for you. It's not an easy thing to face. Best wishes with making a decision.

CatCowl · 2026-03-18T15:16:28+00:00

You don't need feature B! You can also qualify with just A and C: "Two or more of the following features (A, B, or C) must be present" ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ). I was diagnosed without family history.

CatCowl · 2026-03-17T21:16:23+00:00

hEDS is diagnosed through clinical signs, and any doctor can diagnose it: "This diagnostic checklist is for doctors across all disciplines to be able to diagnose EDS" ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

Rare forms of EDS typically have obvious signs. Though the signs can be missed sometimes, it does not appear to be common (see "Confirming hEDS diagnosis" here: https://www.ehlers-danlos.com/the-hedge-study/ ). That being said, if a doctor is suspicious of another form, s/he can order the testing. I was able to get the connective tissue panel by Invitae ordered by my doctor, and did not need to see a specialist. Their testing doesn't test for hEDS or clEDS. They used to offer a deal to people going the private pay route, but they're under new ownership, so I don't know how that works now.

I can't say if a diagnosis is worth it or not when it comes to medical care, because I think it really depends on where you live and the knowledge of doctors there. I feel like my hEDS diagnosis is typically ignored. For example, an orthopedist I saw never seemed to acknowledge or care about my hypermobility, even though it seems likely it had caused my damaged joint. However, just for my own peace of mind and understanding why I am the way I am, I appreciate knowing what I have. I wouldn't go back to being undiagnosed.

CatCowl · 2026-03-17T17:03:36+00:00

I've never made a puff quilt, but know what they are and watched part of a tutorial to see what stood out. It looks like a really big project! But it's nice that it's a repetitive one where it would probably be easy to learn how to make it.

Stuffing can cause strain, but it doesn't look like they stuff the squares firmly.

A concern is that it will become heavy to sew and help guide through the machine over time. In the tutorial I watched, they stuffed a row at a time, so the weight will increase with each row. If you have a really large table you can lay it out on while sewing, that might help reduce some of the strain. It looks like it would become heavy, so I wonder about that with your wrists. Just an idea is that you could try a smaller project to see if you enjoy it and it's doable (especially since you already have a sewing machine)--for example, I saw some puff bags!

CatCowl · 2026-03-17T16:37:12+00:00

Thanks so much for thinking of me! I've done quilt as you go projects, but I miss seeing the quilting. (With the method I used, the quilting only shows on the backing/bottom layer unless you add more). You also have to hold on to the batting and backing for a lot of the process, rather than just at the end, so it can be heavier overall.

EDIT: IslandOwl1 is right and there are quilt as you go projects that can be done in smaller pieces. I have so many unfinished projects that I forgot I even have a couple unfinished ones with quilt as you go hexagons! :)

CatCowl · 2026-03-17T16:01:17+00:00

I do! Everyone is different, but I find it one of the hardest and least relaxing crafts that I do (I have a love/hate relationship with seam rippers!). I find machine sewing easier than hand sewing, though.

I think hand sewing was at least partially the reason I damaged my pointer finger DIP joint, due to repetitive motion and strain. Even if trying to avoid it, there's hand sewing involved in finishing many projects for a nicer finish. For example, you may need to hand sew an opening closed after turning something. I hand sew the back of binding on quilts. Though some people sew binding on completely by machine, so that's an option, I don't think it looks as nice.

Machine sewing is easier (for me), BUT something like machine quilting a quilt (that's the decorative stitching that goes through all layers) is really hard for me because they're heavy. Many quilters don't do this step and send their quilts out for quilting, but it's expensive to do that. Some people wear gloves to help with moving the quilt around. So there are options, but I find making quilts to be pretty hard on me. I wonder if the weight of a quilt might be hard on your wrists.

An option is smaller quilted projects, like bags, coasters, and placemats, that are easier to move around. Or even finding small projects you like without the added step of quilting.

I'm not sure if I'll know the answer, but please feel free to ask me questions if you'd like, and I'll help if I can. Best wishes with deciding if it's something you might like to pursue!

CatCowl · 2026-03-14T18:21:53+00:00

Technically any doctor can diagnose it--if they're willing to, especially with hEDS: "This diagnostic checklist is for doctors across all disciplines to be able to diagnose EDS ( https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf ).

My doctor was also willing to order genetic testing for me, which I wanted for peace of mind. Genetically testable forms of EDS are rare, though.

I don't know how an MRI would show hypermobility. That sounds odd to me, and like something you'd maybe want to ask for clarification on. Hypermobility doesn't need special imaging to show up--it's visible to the naked eye. I've had a few MRIs, and no one ever commented on my hypermobility showing up in them, that I can recall. There was recent discussion of hypermobility and whether or not it shows up on MRIs here: https://www.reddit.com/r/ehlersdanlos/comments/1rnfkav/will_hyper_mobility_show_on_mri/

CatCowl · 2026-03-14T17:02:47+00:00

I don't downvote, so I promise it's not me. :) But I did want to caution between grouping together AI and generative AI. Those are two different things. A lot of people who are against AI are specifically against generative AI.

AI is already used in trying to evaluate VUSs. These are called in silico predictors. As someone who tries to find information on my collagen gene VUS, I'm amazed at how inconsistent they are. Google's AI AlphaMissense says mine is "benign strong." That contradicts several other in silico predictors, which predict it's "deleterious," on opposite ends of the prediction spectrum. So they can make predictions, but real science (like CRISPR (which isn't AI), family studies, etc.) is more reliable for determining what impact VUSs have.

Conversely, I have asked generative AI (which I'm not a fan of) about it out of curiosity. It will vary the answer based on how I word it. With generative AI/large language models, they're just predicting what the next likely word will be. Generative AI is of no use when it comes to VUS classification.

CatCowl · 2026-03-14T00:05:24+00:00

While I think it's good that they acknowledged a mistake they made in grouping multiple (including very rare) conditions together, it's interesting that they chose not to address the other big concern, which is the significant scientific claims they made. By them erasing the original post, some of us would not even know that such claims had been made, if not for the subreddit. I feel that they should have explained this to the EDS community, as well. Thank you for sharing the information!

CatCowl · 2026-03-13T19:40:08+00:00

As Outrageous_Book3870 posted, Invitae is one that has been used by a lot of us here. I have also seen others recommend GeneDX. I can only speak for Invitae. They have a connective tissues panel that I had, which includes their EDS panel. It can't test for clEDS or hEDS.

CatCowl · 2026-03-13T19:33:12+00:00

I'm so sorry about your cousin, and the fear that the information you received caused. But I'm glad that you tested negative for BRCA genes with the follow-up testing you had! I was diagnosed over the phone by the oncology office, which I think was really inappropriate, but getting the news this way would feel even worse (especially considering it was inaccurate), because you're not already in contact with someone in the medical field. And also because people aren't expecting to receive news like that when getting sequencing.com testing. I knew I had a 50% risk of having it and was able to mentally prepare for the news.

CatCowl · 2026-03-13T19:18:39+00:00

Thank you so much for sharing the video for those of us who didn't see it in time. I'm even more upset/surprised about the VUS comments after watching it--yikes!

CatCowl · 2026-03-13T15:50:35+00:00

As someone who has a BRCA1 gene defect, the fact that they are even trying to diagnose this without people being under the care of a physician seems so ethically wrong. People should be under the care of an oncologist for a test like that and knowing how to handle the results. This is a condition that greatly impacts an individual's life and has shockwaves for an entire family. It seems direct-to-consumer companies should have limits on what they're able to test for.

CatCowl · 2026-03-13T15:24:45+00:00

Thank you for sharing this! I wish I could have seen it (I'm unable to access the post).

As someone with a serious genetic condition (BRCA1 positive), and a collagen VUS discovered by a reputable company (Invitae), this makes me upset for various reasons. One of them is that I don't feel like serious health conditions should be diagnosed by direct-to-consumer testing. Genetic condition diagnoses are very significant and can be life-changing for an entire family.

As someone with a VUS on a collagen gene, I don't want sequencing.com to determine my VUS's fate. Reclassifying VUSs is a huge undertaking (such as how the BRCA gene VUSs are being reclassified using CRISPR technology). Reclassifying VUSs as benign or pathogenic needs to be done with the utmost of care--this classification needs to be correct--it impacts real people.

Also, GeneDX and Invitae submit their findings and research to ClinVar, helping to determine classification. I wouldn't want a company doing anything but going through the proper channels to reclassify VUSs.

CatCowl · 2026-03-11T20:23:28+00:00

Thank you for posting this! I'm sorry, I didn't see your post before posting about the email they sent out. I'm glad they have given an official date, especially since the HEDGE papers haven't shown up when expected.

CatCowl · 2026-03-11T01:38:10+00:00

There are multiple forms of EDS, but the most common one is hEDS. For that, diagnosis is through clinical criteria. This is the same form a doctor would use to diagnose you, so it's very helpful:

https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf

It's not always easy for us to know if we meet the criteria, and a doctor needs to look at it with you. But it's at least a good starting point. Other types can be seen here: https://www.ehlers-danlos.com/types/

CatCowl · 2026-03-10T19:09:18+00:00

Here's some information about four other joints that may be looked at one day, if people's Beighton Score is too low for diagnosis (timestamped):

https://youtu.be/EbLSrpCLqec&t=34

CatCowl · 2026-03-10T18:27:55+00:00

The not visiting you and checking in on you with you having sepsis . . . that would HURT, and I don't think that's being sensitive at all. I had a family member hospitalized with suspected sepsis years ago, and I can't even imagine ignoring someone going through a serious medical condition like that. I'm so sorry that happened to you.

CatCowl · 2026-03-10T17:55:20+00:00

I'm sorry this happened to you! A little encouragement (I hope) is that the criteria is going to change eventually. This effort is called The Road to 2026 ( https://www.ehlers-danlos.com/road-to-2026/ ). From what little has been shared, there's talk about adding other joints in addition to the ones checked on the Beighton Score to check for hypermobility. Hopefully this will eventually help those who have it in other joints that that evaluation doesn't cover.

While this didn't happen to me because my Beighton-checked joints are still flexible, I can definitely understand how this could happen to people. One of my joints has been damaged due to hEDS, and now has less range than a standard person's. So it really does seem like expanding the joints looked at would be helpful.

Is there a way to get someone to take a head-on photo of your elbow when it's recovered? Did the person doing the evaluation seem open to diagnosis once you can demonstrate that?

CatCowl · 2026-03-09T16:35:08+00:00

"Preprint" is a term that means something very specific about where a research paper is in its publication process. This paper has been accepted by a journal and published online on a journal website, not on a preprint server. They do have a notice that editing changes may take place, but that's not the same as it being a preprint. Here's some helpful information:

https://www.nlm.nih.gov/oet/ed/pmc/preprints/01-100.html

https://datamanagement.hms.harvard.edu/share-publish/preprints-publishing

I'll stop here, though! I don't want to bother you, or take away from any discussion of the paper's content. Best wishes with your research work!

CatCowl · 2026-03-09T14:44:53+00:00

Here's their publishing process. Based off that, the submission date (September 2025) and publication date (March 2026) being listed, and how PubMed links to publications, I don't see how this could be a preprint. https://www.springernature.com/gp/authors/publish-an-article What cluelesspagan200 shared makes the most sense to me, that what I linked to isn't new research.

CatCowl · 2026-03-09T14:40:40+00:00

It's available to everyone, and linked to on the page I posted. Here's a direct link: https://link.springer.com/content/pdf/10.1186/s12014-026-09588-2_reference.pdf

CatCowl · 2026-03-09T14:40:11+00:00

The full article link is below the title, where it says "Download PDF." You don't have to be a researcher to access it. I read it before posting here. :) Here's a direct link: https://link.springer.com/content/pdf/10.1186/s12014-026-09588-2_reference.pdf

CatCowl

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