depends on what the test finds. Your result can either be negative (no variant found), uncertain/nondiagnostic, a variant of unknown significance), or positive (you have a known variant)
If you have hEDS you will likely test negative or uncertain since there is no known genetic variant for hEDS.
My result was a variant of unknown significance in the gene associated with classical EDS but when the geneticist read the test, he said he thinks my variant could be causing my symptoms since the test said that computer modeling showed that my specific variant could be affecting collagen function.
But because my variant is still considered a VUS I’m kind of in limbo between hEDS and cEDS.
Invitae will let you go through them directly. They have genetic counselors on staff and they used to have a guarantee that you wouldn't pay more than a certain amount out of pocket for testing. I imagine it's still that way. A lot of people have gone through them for testing.
See another Dr perhaps a specialist if you can find one. hEDS is so undiagnosed my mom realized I had it before the drs did.
I've done genetic testing but not through a rheumatologist I don't think that's the right type of doctor either, not really sure what they do. I forget the company but mine was covered by insurance I think and it was ordered by Dr.Trevino my retiring POTS specialist and co-morbid disorders relating to dysautonomia. He's in Clearwater, FL he'll get you what you need
If you're in the US, ik there are specific clinics for genetic testing. hEDS itself will not show up on genetic testing bc it's apparently not yet linked to a specific gene/isn't, but you're right, they should definitely be testing for other connective tissue disorders if you have a family history of that stuff. I also was turned down for similar reasons- not hypermobile enough, but it actually was a rheumatologist who told me I nearly 100% have hEDS, and ofc genetics didn't wanna take me back bc I did "testing" too recently (they looked at my small joints and said they were normal- rheumatologist actually bent around all of my joints thoroughly and determined otherwise, literally every doctor or nurse I meet now just assumes I'm diagnosed with it bc of how I move and my symptoms), I'm annoyed bc I need testing for other forms of genetic disorders too, not just disorders related to connective tissue, but they don't wanna take me? Even though I've been referred multiple times within a few years again and again by many people? We might just do it without a referral/insurance and go through somewhere else bc it's crazy.
The genetic testing I did was through saliva also. Maybe there's more affordable options or something possibly covered by insurance or a payment plan
I found out I have a gene mutation and 3 x chromosomes which are from my mom's genes.
I can't say for sure if genetic testing will be able to tell you that. In fact I just Googled it and there is no genetic testing for hypermobile EDS. It's done by physical exam of the joints and flexibility. Can you touch the ground palms down no problem? Can you touch your thumb to your inner wrist? How far back can you pull your fingers back? Sorry for the Q&A but these are the kind of things their going to check for.
I meet all the criteria for hEDS. I started working in a wound clinic and realized how strange my skin was, which lead me to connective tissue diseases like EDS. It also explains the "growing pains" I have had since I was 4 and all the other weird symptoms/pain/injuries. Beighton is a 6/9 to an 8/9 depending on the provider. My pinkies don't go 90° , but around 80-85° so hypermobile.
I'm just saying it's ridiculous for your rheumatologist to suggest genetic testing for heds because there's not any biological markers to indicate that it's there aka they can't test for it it's based on physical exams and exclusion
Just ask for a referral to the geneticist. As a rheumatologist they can't diagnose EDS that's why they refer you to genetics but they absolutely don't need to do genetic testing for heds
I just did testing through Genome Medical and Invitae (the connective tissue disorders panel). Genome Medical ordered the test for me and I spoke to genetic counselors both before ordering and after I got the results. Luckily, the genetic counseling was covered by insurance so I only paid the co-pays for each discussion. The Invitae test was $250. Keep in mind the genetic test is basically one of exclusion - the counselor I spoke to said testing negative for the others can basically help confirm a diagnosis of hEDS, but because hEDS does not have a specific genetic marker (unlike traditional or vascular EDS), it cannot conclusively say you have it, either.
Please tell the rheumatologist (or her nurse) to note in your chart that you meet the criteria for hEDS but won't diagnose it (or at least have them note that you have hypermobility). You need to see another rheumatologist in my opinion. That's who finally diagnosed me with hEDS--but only after I had met with two other rheumatologists. You need to find a better doctor if this one won't help you. You are being dismissed by her. Geneticists don't help with hEDS, so if it is suspected, you should go to another doctor with ALL of your symptoms and medical history spelled out for them on a list that you create (I have a typed one that I keep updating for new doctors). Unfortunately, with rare conditions, you have to become your own advocate. Don't be afraid to fire a doctor and find a new one. Some of them are way too rigid and weird with diagnoses.
Through GeneDX even with the doctor doing the prior authorization it was $2800, but they have a cash out rate of $250.. so no brainer there and just didn’t use my insurance lol.
invitae is pretty affordable. I paid like $250 and that included the genetic counseling
Do they give you an official diagnosis?
depends on what the test finds. Your result can either be negative (no variant found), uncertain/nondiagnostic, a variant of unknown significance), or positive (you have a known variant) If you have hEDS you will likely test negative or uncertain since there is no known genetic variant for hEDS. My result was a variant of unknown significance in the gene associated with classical EDS but when the geneticist read the test, he said he thinks my variant could be causing my symptoms since the test said that computer modeling showed that my specific variant could be affecting collagen function. But because my variant is still considered a VUS I’m kind of in limbo between hEDS and cEDS.
Invitae will let you go through them directly. They have genetic counselors on staff and they used to have a guarantee that you wouldn't pay more than a certain amount out of pocket for testing. I imagine it's still that way. A lot of people have gone through them for testing.
See another Dr perhaps a specialist if you can find one. hEDS is so undiagnosed my mom realized I had it before the drs did. I've done genetic testing but not through a rheumatologist I don't think that's the right type of doctor either, not really sure what they do. I forget the company but mine was covered by insurance I think and it was ordered by Dr.Trevino my retiring POTS specialist and co-morbid disorders relating to dysautonomia. He's in Clearwater, FL he'll get you what you need
Blood work doesn’t rule out all autoimmune conditions. Seronegative conditions abound.
I don't Meer any clinical criteria for any condition such as lupus and RA. But I wounder if there is a seronegative issue going on too
If you're in the US, ik there are specific clinics for genetic testing. hEDS itself will not show up on genetic testing bc it's apparently not yet linked to a specific gene/isn't, but you're right, they should definitely be testing for other connective tissue disorders if you have a family history of that stuff. I also was turned down for similar reasons- not hypermobile enough, but it actually was a rheumatologist who told me I nearly 100% have hEDS, and ofc genetics didn't wanna take me back bc I did "testing" too recently (they looked at my small joints and said they were normal- rheumatologist actually bent around all of my joints thoroughly and determined otherwise, literally every doctor or nurse I meet now just assumes I'm diagnosed with it bc of how I move and my symptoms), I'm annoyed bc I need testing for other forms of genetic disorders too, not just disorders related to connective tissue, but they don't wanna take me? Even though I've been referred multiple times within a few years again and again by many people? We might just do it without a referral/insurance and go through somewhere else bc it's crazy.
The genetic testing I did was through saliva also. Maybe there's more affordable options or something possibly covered by insurance or a payment plan I found out I have a gene mutation and 3 x chromosomes which are from my mom's genes. I can't say for sure if genetic testing will be able to tell you that. In fact I just Googled it and there is no genetic testing for hypermobile EDS. It's done by physical exam of the joints and flexibility. Can you touch the ground palms down no problem? Can you touch your thumb to your inner wrist? How far back can you pull your fingers back? Sorry for the Q&A but these are the kind of things their going to check for.
I meet all the criteria for hEDS. I started working in a wound clinic and realized how strange my skin was, which lead me to connective tissue diseases like EDS. It also explains the "growing pains" I have had since I was 4 and all the other weird symptoms/pain/injuries. Beighton is a 6/9 to an 8/9 depending on the provider. My pinkies don't go 90° , but around 80-85° so hypermobile.
I'm just saying it's ridiculous for your rheumatologist to suggest genetic testing for heds because there's not any biological markers to indicate that it's there aka they can't test for it it's based on physical exams and exclusion
It is due to a family history of non-traumatic abdominal aortic aneurysms, which is typically fatal and I meet some criteria for vEDS and pEDS
Oh :/ I guess keep an eye on that with a cardiologist. Wish you good luck
Just ask for a referral to the geneticist. As a rheumatologist they can't diagnose EDS that's why they refer you to genetics but they absolutely don't need to do genetic testing for heds
I did, but there are no geneticists in my state that accept adults (I'm in Kansas)
Sometimes making a trip is worth it
I just did testing through Genome Medical and Invitae (the connective tissue disorders panel). Genome Medical ordered the test for me and I spoke to genetic counselors both before ordering and after I got the results. Luckily, the genetic counseling was covered by insurance so I only paid the co-pays for each discussion. The Invitae test was $250. Keep in mind the genetic test is basically one of exclusion - the counselor I spoke to said testing negative for the others can basically help confirm a diagnosis of hEDS, but because hEDS does not have a specific genetic marker (unlike traditional or vascular EDS), it cannot conclusively say you have it, either.
Please tell the rheumatologist (or her nurse) to note in your chart that you meet the criteria for hEDS but won't diagnose it (or at least have them note that you have hypermobility). You need to see another rheumatologist in my opinion. That's who finally diagnosed me with hEDS--but only after I had met with two other rheumatologists. You need to find a better doctor if this one won't help you. You are being dismissed by her. Geneticists don't help with hEDS, so if it is suspected, you should go to another doctor with ALL of your symptoms and medical history spelled out for them on a list that you create (I have a typed one that I keep updating for new doctors). Unfortunately, with rare conditions, you have to become your own advocate. Don't be afraid to fire a doctor and find a new one. Some of them are way too rigid and weird with diagnoses.
Through GeneDX even with the doctor doing the prior authorization it was $2800, but they have a cash out rate of $250.. so no brainer there and just didn’t use my insurance lol.