Question about genetic testing!

[pellicle]

Yeah it’s crazy on Reddit haha.

yep ... would you want your mindset to be closer to medical professionals and researchers or "kiddiez" and "shltposters"

of course you can find some good opinions there (my view is about 2%) but aside from the "filtration" issue you will find that it winds up your anxiety (or in my case my anger, because I hate shltposts as answers to serious questions).

I am OCD and I've made a career out of that (software engineer and database administrator), I fully support (guided) OCD ... anxiety on the other hand I have no time for. Anxiety does not even warrant being called an attribute of your character; anxiety is simply a destructive force that is an outcome of a failure to take command of it. Its like a messy house isn't a sign of well lived in, its a sign of a lack of discipline.

Anxiety is real, just like 2 weeks of washing up in the sink is real; but it is not a characteristic, its a symptom. The longer you foster it the worse it will be for you.

They say that honey attracts more flies than vinegar, but you know, I've always said that bullshlt attracts even more. I'm not a bullshltter, I'm a firm believer in "the truth".

I've never seen anyone who attributes their success to "anxiety" ... or write a book celebrating how its helped them.

Conquer it.

Best Wishes

 

[Survived03]

I saw Invitae - but also see they’re now filing for chapter 11 - would that persuade your decision in anyway? If not, gonna order today

I didn’t realize that. Filled chapter 11 last month. I can’t find anything that shows they have stopped testing will going through bankruptcy. But it’s probably a matter of time unless they get purchased.

I did find another company who is part of Exact Science. They have been around for a while and they provide Cologuard testing for colon cancer. I’m sure you have seen the commercials

Link:
https://www.preventiongenetics.com/testInfo?val=Familial-Thoracic-Aortic-Aneurysm-and-Dissection-(TAAD)-Panel

When I have more time I will look at the actual gene mutations and see how they compare to Invitae.

EDIT: Prevention Genetics test for 17 known gene mutations. Invitae tests for the same 17 plus 17 additional gene mutations

 

[SatoriFround]

Hi guys -

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever else -

Can anyone tell me the steps in doing that? I’m feeling … pellicle cover your ears … *anxious* about not knowing if I have a connective tissue disorder and feel like I need to know that ASAP but have no idea how to get started. Should I ask my PCP? Cardiologist?

Thanks!

I haven't been diagnosed BAV, but the doctors said they can't rule it out. That portion of my heart is hard to image on the echo doppler as I have Pectus Excavatum and my heart is positioned strangely. My wife suspected Ehler's Danlos, but after we did the ancestry DNA test we ran the raw data through Promethease and didn't come up with any Ehler's Danlos markers. I am very tall, 6'4" with a big arm span, and pass the thumb across your palm test that oftentimes signifies Ehler's Danlos. I also have two children with hyper flexibility in that certain joints flex in ways most don't. What most people call double jointed. BAV also seems to be more common in those with Pectus Excavatum. My aortic valve stenosis just moved from moderate to severe (within 18 months).

 

[V__]

suspected Ehler's Danlos,

The symptoms and inherited traits you mention look suggestive (to my non-medical eye). I guess there could be a few possibilities:

• The ansestry's DNA test is not good enough for such analysis. (I don't really know if this is the case. But I know there are specialized medical tests for this purpose.)
• It could be something else "similar". For example, did you check for Marfan's?
• Could be a connective tissue issue that's not classified yet.
• Or just a coincidence of several traits.

AFAIK, it may be useful to consult with a rheumatologist for a real diagnosis. The information may even be useful for the surgery planning.

 

[SatoriFround]

I have zero Marfanoid features. I looked into all the syndrome's that are common in those with PEX (Pectus Excavatum). Reading up on ED on a decent website last night it's a maybe, maybe not. Definitely not definitive. I do have mild scoliosis and PEX, so musculoskeletal, some hypermobility, although some areas I am not as flexible- sitting cross legged on the floor is impossible for my legs. LOL My skin is soft, but I am unsure about velvety soft, LOL. Weirdly my sister was diagnosed with Ehler's Danlos. I am going to have to speak with her more about it at our annual lake house vacation in two weeks. She doesn't fit so much of the criteria. Now I want to know if she actually had genetic tests for it.

 

[tjay]

Hi guys -

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever else -

Can anyone tell me the steps in doing that? I’m feeling … pellicle cover your ears … *anxious* about not knowing if I have a connective tissue disorder and feel like I need to know that ASAP but have no idea how to get started. Should I ask my PCP? Cardiologist?

Thanks!

Sure. Why not explore all avenues available. While genetic science is still developing (i use the analogy that the rocket is not settled into the orbit yet) but it's already shedding valuable insights into diseases/disorders that have genetic disposition.

There are markers identified which point to AAA which are useful to quite an extent. For example, serious ones like Marfan syndrome and Loeys-Dietz syndrome are fairly well identified. While it may not help everyone today, it does help confirm some cases as mentioned. While the rest of us can get some level of assurance that we aren't associated with any known markers (yet) about the severity of our AAA. Once again, it's developing science and isn't all useless. AAA is farther ahead than the BAV.

Here's an article you may find useful:
https://www.ncbi.nlm.nih.gov/books/NBK1120/

Owing to the fact that it's a new science, don't expect your cardiologist to know much about it. However, major centers (e.g. UCSF, Stanford in the bay area) have dedicated genetic counselors associated to the cardiology/aortic departments (cardiologists and surgeons). You may find a genetic counselor closest to you here:
https://findageneticcounselor.nsgc.org/?reload=timezone

As far testing, once you go to the centers that do genetic counseling for AAA/Thoracic Aortic Aneurysm, they would refer you to a lab that does this testing, and work with you to get your insurance cover this test. I got mine back in 2014 thru UCSF and GeneDx was the lab that performed this test. Insurance covered it but I had to pay for some of it.
Then, I recently found another lab that does this test fairly comprehensively for just $250 (whether or not insurance covers it). The lab's name is Embry Genetics: https://www.ambrygen.com/

And finally, do not miss reading this recommendation from American College of Cardiology and AHA published in 2022 about family linkage:
https://www.ahajournals.org/doi/10.1161/CIR.0000000000001106

Let me know if you've any questions. All the best exploring your genes (re: AAA/BAV)