It's really great that they offer medical consultations with their kits! This is a great service & I'll have to recommend it to some of my Zebra friends! I just got my results from a 23andMe ancestry test & I checked out my raw data (both by browsing within their site & exporting to Promethease to use their database tools). And well, something interesting happened... Several pathogenic COL3A1 mutations/variants combined with some of my medical history might indicate vEDS. It was quite a shock, considering my sister's geneticists in France said that her genotype wasn't a concern... But I don't think they really did comprehensive testing because I cross-referenced everything through PubMed & ClinVar & it checks out -- both the mutation her team noted as well as a couple others that weren't on her report. I used to study genetics (before I knew I had a reason to learn it!), so... I know I need to consult my doctors before I get overly concerned. But I think vEDS is back on the table... I haven't had any complications in a while but this all makes me fairly nervous. If I do have it, at least I know where I can come to learn & feel less alone.
Wow! I I am glad you were able to access that raw data. I know there are a couple more people around here that have used 23&Me but I think their doctor didn't take it seriously or something. That's what I love about the Color test- the genetic counselor follow up and the effort to get you a local team. I love that they are doing this! Glad you reached out :)
Oh yeah, Color is definitely worth it! In the future, I might have to splurge on that, especially if I'm having any issues with my doctors. It would be nice to talk to a genetic counselor, anyway, considering there's none in my area :)
This is awesome, and although I’m not convinced I’m not velds, I guess just major crossover symptoms, but since the genetics dr blood tests were neg for it, idk it’s worth putting out the $ to do it. Though I guess the other info is valuable too...
Does it test for any other type of EDS? my doc suspects classic or vascular but i've been having a hard time with the geneticist i was referred to actually wanting to see me.
First of all, this is huge! Thank you, thank you, thank you! One of my daughter's doctor's recently told her that he would not test her for EDS, because it is incurable anyway. I was so mad! Oh, and he also said that there were only four places in the US that would be able to test her, and that it would be too expensive, and that our insurance would never cover it. Well, I guess it is not as expensive as he claims it to be anymore! Thanks to you, I will be able to save up for that test - which will not take long at all! Now, I have a question you may know how to answer: Does this test also look for Mast Cell Activation Syndrome? Thanks again - you are awesome!
It is SUPER expensive through insurance and most of the time the insurance company denies the claim from my understanding. I am not sure if it looks for mast cell activation syndrome. I know at this time it only looks at the vascular form of EDS as well. Might be worth asking about the MCAS directly to them! www.color.com/contact
Hello Katie. I just got my results back from color and they didn’t find anything for veds, what did you mean when you said “ just because they didn’t find a mutation doesn’t mean you don’t have it” I suspect I have Heds but I’m ruling out veds. Thank you in and advance and I hope you’re doing well.
Check with Color- it’s been a while since I recorded this video but I think it may have had something to do with a testing limitation for a very small percentage of mutations types. Maybe duplications? I wish I could remember. But they would know and they might have updated their testing since this video was recorded too.
Yes they have. My genetic counselor I spoke with yesterday after I messaged you said if I had veds they would have found it but they said I 100% don’t have it so that’s good news. Now on to figuring out if I have hyper mobile Eds or classical eds. Anyway thank you for your response.
My question is, is this an anonymous test. As in, yes, they know my name for mailing purposes and the like but they then discard all identifying information once I've concluded with their services? I've heard it's not ideal to do things like this where your information might be able to be bought by insurers or other people who might be able to use the information for nefarious purposes..
I am not sure about this. They do have this section on their page: support.color.com/security-and-privacy They should also be available for questions directly :)
Was this just for a special time or does the kit still test for veds? I noticed on the site it doesn’t mention anything only cancers, heart and medication. Thanks!
Not positive but I think it probably still does. Last time I checked the COL3A1 gene was listed on their heart panel. Definitely reach out to them and ask if you're thinking about getting it for this purpose. Good luck!
Can you show how thin and tearable your skin is?? Like stretch it or show it up close??? I don’t have vEDS, I have suspected loeys Dietz but I’m curious, I have a friend who has had pneumothorax over and over and has thin skin idk if I should mention it to them. Also how old are you?
Hi! I am in my late twenties. It is hard to show how it is up close. It isn't stretchy very much at all. Without intentionally tearing it, the best example I have of how tearable it is is when my cat got spooked and jumped off my lap. I needed 15 stitches. I pretty much have scars everywhere from constantly getting injured. I hope that helps!
Translucent One my skin sounds identical to yours. Scars everywhere, still visible ones from age 3! Had the same cat incidents too many times to count, not as many stitches, but horrible infections and scars- one cat Bite that landed me in hospital two weeks on iV antibiotics- in hosp and then a line in to do at home 3 weeks... thought hand would lose feeling and use and have to be reconstructed but amazingly it’s fine. Just scars. I can’t even list all my scars and wounds, tearing, cuts... amazingly my tattoos and piercings (30 each) heal well- with super duper special care taken.
A physician with Color orders the test when you order the kit. Unless it is for a minor, you can get it without having to go through a doctor's office.
I went back and looked through the website. You would click "I authorize an independent physician from an external network to order the test" when you go to order it. Hope that helps!
It's really great that they offer medical consultations with their kits! This is a great service & I'll have to recommend it to some of my Zebra friends! I just got my results from a 23andMe ancestry test & I checked out my raw data (both by browsing within their site & exporting to Promethease to use their database tools).
And well, something interesting happened... Several pathogenic COL3A1 mutations/variants combined with some of my medical history might indicate vEDS. It was quite a shock, considering my sister's geneticists in France said that her genotype wasn't a concern... But I don't think they really did comprehensive testing because I cross-referenced everything through PubMed & ClinVar & it checks out -- both the mutation her team noted as well as a couple others that weren't on her report.
I used to study genetics (before I knew I had a reason to learn it!), so... I know I need to consult my doctors before I get overly concerned. But I think vEDS is back on the table... I haven't had any complications in a while but this all makes me fairly nervous. If I do have it, at least I know where I can come to learn & feel less alone.
Wow! I I am glad you were able to access that raw data. I know there are a couple more people around here that have used 23&Me but I think their doctor didn't take it seriously or something. That's what I love about the Color test- the genetic counselor follow up and the effort to get you a local team. I love that they are doing this! Glad you reached out :)
Oh yeah, Color is definitely worth it! In the future, I might have to splurge on that, especially if I'm having any issues with my doctors. It would be nice to talk to a genetic counselor, anyway, considering there's none in my area :)
Thank you so much!
You're welcome! Hope it helps!
This is awesome, and although I’m not convinced I’m not velds, I guess just major crossover symptoms, but since the genetics dr blood tests were neg for it, idk it’s worth putting out the $ to do it. Though I guess the other info is valuable too...
Does it test for any other type of EDS? my doc suspects classic or vascular but i've been having a hard time with the geneticist i was referred to actually wanting to see me.
Only the vascular type from my understanding. That has to be so frustrating!
EpoxyMuffin wanting to see you, or just a long wait?? I had to wait 10 months for appt 😬
First of all, this is huge! Thank you, thank you, thank you! One of my daughter's doctor's recently told her that he would not test her for EDS, because it is incurable anyway. I was so mad! Oh, and he also said that there were only four places in the US that would be able to test her, and that it would be too expensive, and that our insurance would never cover it. Well, I guess it is not as expensive as he claims it to be anymore! Thanks to you, I will be able to save up for that test - which will not take long at all! Now, I have a question you may know how to answer: Does this test also look for Mast Cell Activation Syndrome? Thanks again - you are awesome!
It is SUPER expensive through insurance and most of the time the insurance company denies the claim from my understanding. I am not sure if it looks for mast cell activation syndrome. I know at this time it only looks at the vascular form of EDS as well.
Might be worth asking about the MCAS directly to them! www.color.com/contact
Translucent One my insurance co (America health) had no issues with the massive amount of vials they took at the genetics office... hmmm
Hello Katie. I just got my results back from color and they didn’t find anything for veds, what did you mean when you said “ just because they didn’t find a mutation doesn’t mean you don’t have it” I suspect I have Heds but I’m ruling out veds. Thank you in and advance and I hope you’re doing well.
Check with Color- it’s been a while since I recorded this video but I think it may have had something to do with a testing limitation for a very small percentage of mutations types. Maybe duplications? I wish I could remember. But they would know and they might have updated their testing since this video was recorded too.
Yes they have. My genetic counselor I spoke with yesterday after I messaged you said if I had veds they would have found it but they said I 100% don’t have it so that’s good news. Now on to figuring out if I have hyper mobile Eds or classical eds. Anyway thank you for your response.
That’s wonderful! Wishing you the best in your diagnosis journey and hope you find the answers you need
My question is, is this an anonymous test. As in, yes, they know my name for mailing purposes and the like but they then discard all identifying information once I've concluded with their services? I've heard it's not ideal to do things like this where your information might be able to be bought by insurers or other people who might be able to use the information for nefarious purposes..
I am not sure about this. They do have this section on their page: support.color.com/security-and-privacy
They should also be available for questions directly :)
@@TranslucentOne Thanks very much for your response. I appreciate it.
Hello! Did you actually test positive for the gene mutation? I'm curious how accurate their tests are. Thanks!
Yes I did!
Do they take insurance?
Hm. I’m not sure about that! Check with them @ color.com
Was this just for a special time or does the kit still test for veds? I noticed on the site it doesn’t mention anything only cancers, heart and medication. Thanks!
Not positive but I think it probably still does. Last time I checked the COL3A1 gene was listed on their heart panel. Definitely reach out to them and ask if you're thinking about getting it for this purpose. Good luck!
Can you show how thin and tearable your skin is?? Like stretch it or show it up close??? I don’t have vEDS, I have suspected loeys Dietz but I’m curious, I have a friend who has had pneumothorax over and over and has thin skin idk if I should mention it to them. Also how old are you?
Hi! I am in my late twenties. It is hard to show how it is up close. It isn't stretchy very much at all. Without intentionally tearing it, the best example I have of how tearable it is is when my cat got spooked and jumped off my lap. I needed 15 stitches. I pretty much have scars everywhere from constantly getting injured. I hope that helps!
Translucent One my skin sounds identical to yours. Scars everywhere, still visible ones from age 3! Had the same cat incidents too many times to count, not as many stitches, but horrible infections and scars- one cat Bite that landed me in hospital two weeks on iV antibiotics- in hosp and then a line in to do at home 3 weeks... thought hand would lose feeling and use and have to be reconstructed but amazingly it’s fine. Just scars. I can’t even list all my scars and wounds, tearing, cuts... amazingly my tattoos and piercings (30 each) heal well- with super duper special care taken.
Does a physician need to order the test? because that's what it says online
A physician with Color orders the test when you order the kit. Unless it is for a minor, you can get it without having to go through a doctor's office.
I went back and looked through the website. You would click "I authorize an independent physician from an external network to order the test" when you go to order it. Hope that helps!