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Genetic Testing including Fragile X & Microarray?

post #1 of 9
Thread Starter 

We saw a developmental pediatrician for two of our sons last week.  Our DS who is 6yo has PDD-NOS and our DS who is almost 4yo has Autism.  The dev ped recommended genetic testing starting with the most severely affected.  We haven't gone to give the blood for this yet but I have been trying to do some research on it before we do.  He mentioned that they would look for all of the chromosomes, do fragile x testing and also microarray.  Does anyone have any good links or personal experience with these?

post #2 of 9
Watching this thread... we have an appt. for July to get the microarray as well. They take a little bit of blood, duplicate the DNA, then map it against a control to see what the differences are. From my mad googling, apparently it identifies gene deletions, duplications, and some irregularities, though it's far from a perfect test. My understanding is that the tests may vary a little bit depending on where you have it done... some can identify smaller deletions than others, for example. Plus, as they learn more about gene functions, they add more things to look for in the test.

Anyway, interested in what others' experiences have been!
post #3 of 9

Fragile X is a specific genetic condition which can look alot like autism.  A micro array... well, to put it in very simplistic terms as I, a layperson, understand it, they split up the genes, stain them different colors so when they lay them on top of each other, they can see the deletions and duplications that may occur.


It's common to have some "off" genes.  However, if they see something they aren't familiar with (which is very common), they will test the parents, if the parents are neurotypical and they have the same mutation, they know that gene abnormality isn't causing the problem.  If they don't, there is a good possibility that it's a genetic deletion or duplication. 


Right now, there isn't really any treatment for a deletion or duplication. However, by having your children have a very simple blood test, it adds to the education pool.  If your children have a known genetic deletion or duplication, they may qualify for a study.  Participating in these studies puts you on the front lines of new information and, possibly treatments.


Our son has a genetic deletion at 16p11.2.  It's known to cause autism and autistic like behaviors (my son has the later).  We've done a study, they have helped us get services for our son, directed his therapies with us, and kept us abreast of any new discoveries.  There is a wonderful community that we are part of where we share information (and laughs) about our kids.  Feel free to PM me any questions.

post #4 of 9

I'd recommend that they do the fragile X, FMR1 DNA test first, least expensive, rule it in or out, should have results in about two weeks.  If you rule it out than they should do the microarray or chromosome analysis.  Microarray or chromosome analysis are not reliable tests alone to diagnosis FX but they are good at detecting the deletion on the gene (which will also result in fragile X).  


If you wish to learn more I recommend the following websites:


Suggested websites:

Your Genes Your Health - www.ygyh.org - fragile X page

FRAXA Research Foundation - www.fraxa.org

The National Fragile X Foundation - www.fragilex.org

The CDC - http://www.cdc.gov/ncbddd/fxs/index.html


And, awhile ago Time Magazine did a great article on fragile X you might find interesting.


Time Article – Fragile X: Unraveling Autism's Secrets



Best of luck to you, let me know how it turns out.  (((hugs))) Sally

post #5 of 9

We just had our 2 and a half year old son tested for Fragile X and the chromosomal analysis.  The geneticist called and suggested the microarray, since the first two came back negative.  The doctor explained that we are looking for the cause of my son's disability (he has apraxia/gross motor dyspraxia), and since I am over 35 and hoping to have another child, we will go through with this.  I am not sure though, what this microarray will tell us. It would be great to know if we can participate in any research, and get more education on his impairments. I too am interested in what other people have experienced and hope they are willing to share.  This is something that none of my friends or family have experienced so any feedback is welcomed.  Best wishes for you all.

post #6 of 9

A micro array will tell you if your son has any genetic abnormalities that can explain his challenges.  My son would present as being on the spectrum when you first would meet him.  Then, after about 20 minutes, you realize that he's not on the spectrum.  He has apraxia, sensory processing disorder, severe adhd, auditory processing disorder and probably dyslexia.  He has a "floppy" ear and some other mild dysmorphic facial features that his developmental pediatrician notices.  Since the doctor felt that he couldn't put our son into a "box" (fragile x, autistic, etc.) that it may be genetic.  We had the micro array done and it showed a deletion at 16p11.2 which is one of the known deletions/duplications that is associated with autism and autistic like behavior.  


We participated in the study and it was very beneficial to help us understand our son better, what therapies are appropriate and also to keep abreast of new developments.

post #7 of 9
We had genetic testing done with DS.

When he was originally diagnosed with ASD, the usual testing was the Fragile X test and a High Resolution Karyotype. Both these tests came back as normal.

A few years ago, the Chromosome Microarray became the standard test. DS's doctors wanted to see if there could be a connection between DS's autism and his albinism, do we did this test. We discovered that DS has a micro deletion on Chromosome 19. This result is so rare that the doctors cannot even determine the clinical significance of it. There are only a handful of cases in the literature and none of them present like DS.

So sometimes the testing can leave you with more questions than answers. I wasn't prepared for that. Still, I'm glad we did the test because I always would have wondered otherwise.
post #8 of 9

Subbing...  lurk.gif


We got a prescription for these very tests yesterday and DS had the blood taken today. He was very brave. I'll let you know how it turns out!

post #9 of 9

Hoping you get answers!

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