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Genetic Tests -Useful?


masumeh
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Has anybody gone to a geneticist for POTS investigations? I'm headed to the US in a few months and I'm setting up doctor appointments now, trying to look into getting a better handle on joint problems. I want to be tested for EDS, but I want to see if there's anything they can test related to the POTS too, maybe test for genetic causes or something like that.

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I don't know of any genetic causes for POTS besides EDS. Please also keep in mind that there aren't genetic tests for all types of EDS including the most common form EDS hypermobility type. A good resource for you to learn about the diagnostic criteria for the various types of EDS is www.ednf.org.

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I remember someone who participated in a study on dysautonomia and genetics. If I remember well lots of her family members were included in this study (I actually think the study was specificallyset up for that particular family). Not sure whether the study has ended yet so this may not be very helpful. You may want to try google genetic dysautonomia and see what come up.

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My son has had some gentic testing done but nothing showed up. He was checked for mitchondrial and some diseases that affected amino acid metabolizm. EVerything came up negative but there was study done on a family. If anyone finds those results, be sure to post them. Good luck with your testing.

Have you thought about doing the 23 and Me testing? That test might be helpul to do. It checks for genetic mutations, and has been very helpful to me with my son's situation. I use the information to help with nutritional needs.

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If you use just the genetic genie, you will only get the basic results with the raw data but if you use the Promethease Report it goes through all your raw data and it gave me a 500 hundred page report on 16800 genotypes found in Tyler's body. This report cost less then 10 dollars and tell you your risk about how likely you are to develop the condition. The liveWello report is simular to the Genetic genie but goes through more of the 23 and me/snps. It is a color coded report for $20. These repots were well worth the money and have been very helping in making some simple nutritional changes that will pay off in the long run for my son. These reports have also been sent to Tylers doctors and research doctors to help them figure out what all might be involoved in Tyler's medical condition.

Edit The raw data gives you the genetic information. I did receive a simple one page report on the ancestry. It was interesting but the raw data is the information you need to be able to figure out your SNPS. This company is not allowed to send the report that tells you what your chances are to likely develop a condition. The promethease report will supply that information.

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I had a terrible experience with a geneticist that my neurologist recommended. I don't know of any genetic POTS causes other than EDS or mitochondiral causes but a few connective tissue disorders are associated with POTS (not causes of POTS). When I was there they were looking for signs of Marfan Syndrome and Loeys-Dietz Syndrome (both of which you'd probably have serious signs of having and notice long before this) and neither of which I even remotely had any signs of. I was however told to revist a geneticist before I start having a family incase there are any inherited risk factors. I don't know.

For ME it was a total waste of time but I have no hypermobility.

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I just started the process. Imapumpkin- curious who you saw as I know we are in the same state. I know they do have several pots patients- mostly younger (teens) and mostly with eds or mito. They told me I don't jump out to them as having either, but they did a bunch of preliminary blood work.

So far pretty much everything seems to be a dead end for me, so at the very least another possible cause to cross off the list? LOL, trying to look at the bright side.

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  • 2 months later...

I just got my 23andMe results back. As of now, I didn't learn anything particularly useful in terms of POTS from the test. However, I believe as they continue to research genetics, knowing I have uncommon mutations at some of these SNPs may explain some things.

I actually have a SNP variation that makes me likely to have a LOWER heart rate than people with other variations. This gene definitely isn't expressing itself in my case... or if it is I am scared to think what my normal resting heart rate would be!

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