Have you gotten a genetic test done?

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I'm writing an article about autism and am trying to learn more about the diagnostic tests that people use. I know that this is a hot-button topic -- I'm not trying to upset anyone (though I am fine with lively debate). My little brother is ASD (Fraxa) so this stuff gets me a bit riled up as well!

So: If you had a genetic test done, did you do it through your doctor? Or through a company? Was it useful to you? Why did you get it?

Any help you could give me would be greatly appreciated. If you want to do this via email, just send me a message.

I'll be sticking around and can let you know anything I learn about the tests. Also if you have any questions about genetics etc., I was a scientist so know a bit about this stuff. Ask away and I'll do my best!

Thanks in advance!

Hannah

never heard of a genetic test for autism. there are tests where you answer a questionnaire but as far as i know, there's no genetic test and you can't even diagnose autism through X-rays or blood test or anything else like that.
sorry.

There are tests out there. There aren't too many autism genes identified yet (enough to explain 15-20% of ASD, excluding Fraxa), but doctors will do some genetic sequencing to see if there is a match with what we know, or to find out if siblings or parents have similar genes. Here are some examples of companies that offer testing, although doctors also have in-house testing centers.

(I'm too new to post links - here are a couple company names though)

GeneDX
Lineagen
Integragen
SynapDX (Early stage company still)

I have heard of a brain scan, but no genetic tests. It appears that some of our brain structures are different from a nt. Actually if you are doing research on asd I'm pretty sure you've heard of it. However the test is still in its experimental stage and not 100% accurate.

A small number of autistics (roughly 5% or so) have identifiable genetic syndromes causing their autism. Most of these conditions can be detected by karyotyping or flourescence in situ hybridization (FISH) and are generally chromosome rearrangements.

Autistics with chromosome abnormalities, on average, tend to be lower functioning (most function somewhere between moderate to profound MR, which is usual for chromosome disorders in general). And most have multiple physical abnormalities, which can be subtle things like unusual facial features or unusually small hands or whatever, or could be major things such as congenital heart defects (though if they have too many congenital defects then they'd probably get genetic testing long before the diagnosis of autism). My guess is relatively few people on this forum have chromosome issues, and those who do are probably lower functioning (apparently Sue Rubin has 2q37 deletion, for example).

Myself, I have not had any genetic testing done.

Autism is ridiculously polygenic and multifactorial... Unless there's a reason to suspect either Rett syndrome or some other genetic glitch, they don't generally do genetic testing.

If you showed up with autistic traits and Fragile X in your family, for example, they'd probably test for that. Or if you lost skills dramatically, and were female, they'd test for Rett's. But if you had just plain autism and nothing else, they'd just go, "Yeah, s/he's autistic," and not really do testing. Especially if it was obvious that what you had was autism, and not autism-plus-something-else-neurological. If you had, say, cerebral palsy too, or you had severe epilepsy, or you had been born with congenital problems, then they would likely do genetic testing.

I have had genetic testing done to see whether my mother had passed on the genetic vulnerability for celiac disease to me. She did not. Oddly enough, she did pass it to my NT sister.

"Some" would be the key word; I certainly have AS, but when I got an MRI they said they didn't see any of the abnormalities found in some with AS.
Maybe it's because I'm female? Maybe much research hasn't been done on brain structures of ASD females in comparison to ASD males and the general NT population?

No desire to get a genetic test. Not because it might show a predisposition toward AS, because it might show I have a heightened risk of Alzheimer's or Parkinson's or some other degenerative disease. If I'm going to get something that will destroy my mind and I cannot treat it, I'd rather not know. That way I at least enjoy the life I have until the disease takes over.

Prsonally if I was going to get Alzheimer's or Parkinson's I'd rather know in advance, because then I could make preparations. For example, I could shop around the various care homes and lobby for improvements in them so I don't end up in a bad home.

I was told when diagnosed that my GP could do a genetic test when I asked about if I would pass on Aspergers if I have children. I'm unsure if I would do this as not thinking about children at the moment. Part of me wants to leave it to nature.
It is not a foregone conclusion that it would be passed on and if I did I would know about it and he/she could get more help than I did.

i score high on aspie score. but people with fragile x syndrome do. i think i fit more into the FXS category so i'm going to try and do the test very soon if its covered by my healthcare (might only be covered for children though annoyingly)

Personally, I'd buy a gun. ^^

I'd rather not do a genetic test if I was a woman enough to marry and have a family. I never felt female, so a husband and a family is out of the question for me.

I've had a genetic test for my hearing loss.

If I were to get a genetic test done it wouldn't be because of my autism - it would be because of my strong family history of diabetes.

However, its not something I either have done or plan to do at all.

One I previously posted on is pasted below. Some recent reports have increased the frequency of mild versions of TSS to 1 out of 3,000:

Tuberous Sclerosis has a frequency of 1 out of 20,000 people. Autistic Spectrum Disorders amongst those with Tuberous Sclerosis is 43%-86% in epidemiological studies.

I discovered this because my Shagreen Patches have again been irritated by something, along with subungual fibromas disrupting my toe nail anatomy. I also have epilepsy, and epilepsy happens in 78% of cases of Tuberous Sclerosis. I have genetic dental problems that are also very common with Tuberous Sclerosis. My very large, and unusual type, of Becker's Nevus is not suppose to be related to Tuberous Sclerosis, but many types of nevi are. If these readily apparent impairments were independent of each other, the chances that I would have them would be about one out of a few hundred million, while having them as a result of Tuberous Sclerois would be about one out of thirty thousand. Money stops me from getting genetic testing for Tuberous Sclerosis and genetic disorders possibly independent of it (such has genetic hypodontia, other nevi tuberous disorders, LQTS-2, etc.).

Whether Autism is associated from the epilepsy, or directly from the sclerosis (which may have "caused" everything else) "remains to be examined". From: "Neurocutaneous Syndromes and Epilepsy—Issues in Diagnosis and Management" by J. Helen Cross, page 18 (Epilepsia, 46(Suppl. 10):17–23, 2005), often at:
http://onlinelibrary.wiley.com/doi/10.1 ... x/abstract
The more relevant references are:
http://www.ncbi.nlm.nih.gov/pubmed/12023313
http://www.ncbi.nlm.nih.gov/pubmed/10550700
http://www.ncbi.nlm.nih.gov/pubmed/16174309

If I have Tuberous Sclerosis, the epilepsy is the most disruptive, the autism is more of Asperger's, the heart conditions more like LQTS-2, with minor to moderate liver, kidney, skin, dental, and digestive problems from other possible "tubers" in fluctuating disruptions.

Much confusion results from the "a priori" nature of DSM disorders, versus the much more empirical base for nearly exclusive physical disorders often with strong correlations to DSM disorders.

Tadzio

"Tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome."
Full article often at: http://brain.oxfordjournals.org/content/125/6/1247.long