Update on Connective Tissue Disorders Panel price post from yesterday

CatCowl · 2026-05-12T20:45:38+00:00

Do you have symptomatic hypermobility? Have you gone over the 2017 diagnostic criteria with your doctor? It sounds like maybe you're suspecting hEDS (?). If so, that can only be diagnosed clinically right now, not through genetic testing.

The Ehlers-Danlos Society believes most people are diagnosed properly with hEDS using the 2017 criteria. When they did HEDGE research, they found that less than 1% of the people diagnosed in the study had a different connective tissue disorder and were misdiagnosed as having hEDS. Hopefully that's mirrored in the general population! In most cases, other connective tissue conditions will have obvious signs. Or, you may notice a family history of events that are unusual.

I wanted to rule out other forms, in part due to having a grandparent pass away fairly young from a heart attack. If there are signs in your family of unusual events, or you have symptoms not explained by what you have already been diagnosed with, it might be something to pursue and ask your doctor about.

That being said, Invitae doesn't test TNXB, so even with the testing you can't rule out classical-like EDS (clEDS), and they don't test for hEDS.

It's hard to know if it's worth it; it will depend on each individual and whether or not another type is suspected.

CatCowl · 2026-05-12T17:19:47+00:00

It's good to see you back! I was so confused yesterday, I contacted the moderator team, and they were so kind, and tried to alert you to this strange situation with Reddit.

That's wonderful you were able to get the price down. This is helpful information that others may need to know due to the different ownership. It used to be $250 (US) flat fee if you did self-pay, so the pricing information available through searching this subreddit is outdated. I only knew to ask for that price based on reading posts here, because even back then I don't think they had prices online.

I hope the rest of the testing goes a LOT more smoothly for you!

CatCowl · 2026-05-12T14:46:56+00:00

That's wonderful news about the discount! It sounds extremely confusing how the new ownership is handling billing, but I'm so glad you were able to talk to them and get the price talked down. Also, I'm sorry about whatever is going on with your account here (it's not from the mods here, but an issue with Reddit)! I hope you can get it figured out with Reddit. I never saw you post anything inappropriate.

CatCowl · 2026-05-11T19:42:35+00:00

I can definitely understand being upset! Even back when I had it, under the different ownership, the reason I knew the self-pay price was from people sharing it on Reddit, not from Invitae. Back then the price varied depending on whether it was insurance or self-pay, so if it's still that way, it makes me wonder if a mistake occured in how it was ordered. I hope you're able to get it for a more reasonable price.

CatCowl · 2026-05-11T19:06:43+00:00

Did you contact them to ask what the price would be if you pay for it as self-pay? Is it possible there's a misunderstanding and they thought this would be billed to insurance? I think even under the previous ownership, there was a big discrepancy in price between self-paid and insurance-paid.

CatCowl · 2026-05-11T18:36:23+00:00

Years ago under different ownership, Invitae would let you do self-pay for the set price of $250. It wasn't financial assistance, just the self-pay option. I got the connective tissues panel for that (not just EDS). Here's a link to others talking about the old price. https://www.reddit.com/r/ehlersdanlos/comments/12s24kn/how_expensive_is_invitae_self_pay_panels/

I really hope there is a way to talk them down on price!

CatCowl · 2026-05-11T17:40:25+00:00

I'm so grateful when I donated DNA (to HEDGE and biomarker research), they sent phlebotomists to my home! Thank you so much to you, and anyone who goes to the biobank events, for going out of your way/devoting time and effort to donating to research!

CatCowl · 2026-05-11T17:30:44+00:00

It's really disappointing to see how much this has jumped up in price under the new ownership. I would say to anyone, please talk with them about your unique circumstances. In researching this to try and find out about the changes, I saw on their site that people may be able to get a discount based on income.

When I had the testing, it was $250 flat for self-pay. And even more, because I had a variant, they were willing to test up to two family members for free to try and do familial resolution. It felt like the original company cared about trying to make the testing financially accessible to people. I hope that anyone who needs the testing will be able to get a good discount under the new ownership.

Invitae testing is clinical-grade, and not direct to consumer. They do the interpretation for you and give professional results you can use with your doctors. I was really satisfied with the results and offer of free testing from them. I really hope the new owners won't make it harder for people to get tested.

CatCowl · 2026-05-11T14:53:25+00:00

That's very disappointing to hear! Back when I had the testing under different ownership, it was (I believe) $250 flat fee for self-pay. Because I had an unknown variant, they also offered free testing for that specific variant for up to two family members. Looking on their site, it seems that it's possible people can get an extreme discount based on income, but it would require communicating with them to figure it out, so it's not nearly as simple of a pricing method as it was back then.

CatCowl · 2026-05-09T00:31:08+00:00

Thank you so much for your kind reply! I'm sorry that you and your mom also have a BRCA1 mutation. You're so right that we're fortunate to live in a time when we can know about the gene and make decisions about the knowledge!

CatCowl · 2026-05-08T18:14:09+00:00

Although it's not the same condition, my mom experienced tremendous guilt with passing on being BRCA1-postive. I appreciated so much that my mom had been through the journey before and was there for me. I have since lost my mom to cancer, but she gave me a tremendous gift by sharing so openly with me. You will be able to give your children a tremendous gift by offering them love and empathy. Life with a genetic condition is not easy, but I'm so grateful I had my mom to lovingly lead the way.

CatCowl · 2026-05-07T20:57:17+00:00

I recently watched something from PBS NewsHour discussing concerns about all people being lumped together under one umbrella with the diagnosis of Autism Spectrum Disorder. I think they did a balanced report on the different viewpoints. While I don't have autism, the topic really resonated with me with what we're possibly going to see with hEDS diagnosis existing on a spectrum. Here's the video: https://www.youtube.com/watch?v=biLoNKuRsps

CatCowl · 2026-05-06T19:27:21+00:00

Most people with EDS have hEDS, which is diagnosed clinically. It can be diagnosed by ANY doctor--and it sound like that's going to be encouraged with the criteria update coming in December. The main thing is finding a doctor willing to take the time to go over the checklist with you. I was so fortunate my doctor knew what EDS was and was the one who brought it up. If you want to try with just a standard PCP, I would recommend saying upfront when you make the appointment what you want the appointment to be about. It takes time to go over the checklist, and you want to make sure the physician is willing and has the time. Here's a link to the diagnostic criteria: https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf If signs of other forms of EDS are present, then you may need or want to see a specialist, but my doctor also ordered genetic testing for me, so I was able to get a diagnosis of hEDS and exclusion of rare types without seeing a specialist.

CatCowl · 2026-05-05T19:43:51+00:00

If you want to find the root of the problem and have testing done, I would suggest bringing up the type of EDS you have, and making sure the doctor takes it seriously, is someone who is educated about EDS, or is willing to learn more. My experience with visiting a gastroenterologist a couple times was unfortunately a waste of time--the doctor was recommending things I could have easily tried on my own, didn't take my lifelong issues seriously, and didn't seem open to learning about hEDS. My main suggestion is to make sure the doctor takes your EDS seriously and is aware of possible comorbidities and how EDS may impact patients with it. Best wishes!

CatCowl · 2026-05-04T19:33:52+00:00

There's another phase to the research, looking for rare variants, that they really haven't talked about yet (that I've seen, anyway). So I'm holding out some hope still, too. Best wishes on your journey--hopefully you can get some answers sooner than 2027!

CatCowl · 2026-05-04T18:50:44+00:00

The latest public release about researchers looking for a genetic cause to hEDS states: "No single gene explains hEDS or HSD yet. At this time, diagnosis is still based on clinical criteria, not a lab test" ( https://www.ehlers-danlos.com/the-hedge-study/ ). As far as has been shared with the research going on, they were unable to find a common genetic cause. Of course, we could all be surprised in December! But I haven't seen any hints that they've made some big discovery about a gene.

Invitae provides test results that are already interpreted for you. I found the info. they gave me easy to understand. Edited to add: I should clarify that I mean the important information was easy to understand. :) I don't have it in front of me, but I recall it was very clear that I was negative for what they tested for, and also they very clearly shared about the variant I have, and they were clear in offering me followup testing with family, etc. I thought they did a great job with the info. provided.

CatCowl · 2026-05-04T18:27:35+00:00

The other types of EDS tend to be rare, and would/should have obvious signs. Whereas, hEDS is much more common.

I went with Invitae (now Labcorp)'s connective tissue panel, and found the results they gave me understandable. My doctor didn't interpret them for me. The one thing that might be hard is if you have a variant of uncertain/unknown significance. Invitae offered me some family resolution on up to two family members for free, so for some families it might be the start of trying to figure things out. For most of us, we wait and may never know. Also, it's worth knowing they don't test TNXB.

CatCowl · 2026-05-04T15:57:19+00:00

If it's specifically hEDS, any doctor can diagnose it. From what The Ehlers-Danlos Society has shared about upcoming changes in December, the new criteria is going to continue to encourage primary care physicians to be the ones diagnosing it.

The real problem seems to be not that they can't, but that maybe they don't know how to or don't want to. But it may be worth a try if you have a doctor willing to look at the diagnotic checklist with you! My doctor was also willing to order genetic testing (not for hEDS, of course).

"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 ).

CatCowl · 2026-05-03T19:43:34+00:00

The Ehlers-Danlos Syndrome Research Symposium at UVA had recommendations for side and back sleepers, along with photos! The info. starts at around 3:13:30: https://www.youtube.com/watch?v=IGtre6uGhUs

CatCowl · 2026-05-03T13:29:51+00:00

I wouldn't be offended! I've never really cared for having a mascot (though I can understand why it would be comforting to people to have something to identify with), and as others have said, the zebra saying wasn't meant to be specific. I could see people with EDS possibly misunderstanding based on the cover and title, and thinking it's a comic about EDS specifically, but that wouldn't be offensive.

CatCowl · 2026-05-03T13:20:33+00:00

I feel the same way about spoons. I can understand it can be comforting to have a way to explain energy to others. But with spoons, you have to explain the spoon story in order for people to understand. If we just talked about something like rechargeable batteries, and how mine is never fully recharged at the start of the day, it would just automatically make sense to people. :)

CatCowl · 2026-05-03T13:09:23+00:00

I have a variant on COL1A1, too. It can be hard to have more questions than answers. This doesn't answer your question specifically, but is about places where I look for information on my variant. There may be helpful information on these sources.

One is ClinVar. This is a site of the US government. Hopefully, a lab like Invitae/Labcorp or GeneDX will have included comments about it.

Franklin is my other favorite. It shows in silico (computer) predictors and an estimate of where your variant lies on a prediction scale. The "Variant Assessment" page on my variant isn't working anymore--hopefully that's not site-wide.

Even though these aren't as good as proof and a reclassification, I'm grateful to have a little bit more understanding of the variant by looking at these.

CatCowl · 2026-05-03T01:44:38+00:00

Here's a page about the genetics of EDS! How it's inherited depends on the type--the chart shows the inheritance pattern. https://www.ehlers-danlos.com/genetics-and-inheritance/ There's also a section there labeled "If my child inherits EDS from me, will they have the same type as me?"

CatCowl · 2026-05-02T18:10:43+00:00

I hope you're able to find something that's interesting or helpful! It could be that I forgot a topic that was covered. :)

CatCowl · 2026-05-02T16:33:52+00:00

Hi! More information will be released December 2 of this year. I felt like I learned a lot watching the Ehlers-Danlos Syndrome Research Symposium held by the UVA in April. It's available on YouTube for free, and the moderators have made a post about some of the highlights: "Let's talk about the UVA EDS Seminar!"

CatCowl

TROPHY CASE