Genetic Testing including Fragile X & Microarray? - Mothering Forums
Forum Jump: 
 
Thread Tools
#1 of 9 Old 05-01-2012, 06:29 AM - Thread Starter
 
countryduck's Avatar
 
Join Date: Apr 2006
Location: In the Boonies North Carolina
Posts: 93
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

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?

countryduck is offline  
#2 of 9 Old 05-01-2012, 06:59 AM
 
Mosaic's Avatar
 
Join Date: Jun 2005
Location: La vida loca
Posts: 4,005
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
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!

Mi vida loca: full-time WOHM, frugalista, foodie wannabe, 10+ years of TCOYF 

 

R-E-S-P-E-C-T spells BRAND NEW User Agreement!!

Mosaic is offline  
#3 of 9 Old 05-01-2012, 11:27 AM
 
SpottedFoxx's Avatar
 
Join Date: Feb 2010
Location: Philadelphia Area
Posts: 815
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

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.


Walking to raise money for Apraxia - feel free to join me if you are in the area or donate http://www.apraxia-kids.org/southjerseywalk/juliefoxx
SpottedFoxx is offline  
#4 of 9 Old 05-01-2012, 06:33 PM
 
SallyNada's Avatar
 
Join Date: Aug 2010
Posts: 1
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

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

http://www.time.com/time/magazine/article/0,9171,1818268,00.html

 

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

SallyNada is offline  
#5 of 9 Old 05-31-2012, 06:12 AM
 
Chorse17's Avatar
 
Join Date: May 2012
Posts: 1
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

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.

Chorse17 is offline  
#6 of 9 Old 05-31-2012, 07:47 AM
 
SpottedFoxx's Avatar
 
Join Date: Feb 2010
Location: Philadelphia Area
Posts: 815
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

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.


Walking to raise money for Apraxia - feel free to join me if you are in the area or donate http://www.apraxia-kids.org/southjerseywalk/juliefoxx
SpottedFoxx is offline  
#7 of 9 Old 06-02-2012, 03:07 PM
 
Lollybrat's Avatar
 
Join Date: Sep 2008
Posts: 505
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
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.

Lolly
Mom to an amazing little guy, age 9 (Autism, Hyperlexia, Dyspraxia, Albinism, Chromosome Microdeletion)

Lollybrat is offline  
#8 of 9 Old 06-02-2012, 07:04 PM
 
Thing1Thing2's Avatar
 
Join Date: Apr 2008
Location: USA
Posts: 1,345
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 1 Post(s)

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!


familybed2.gif Wife to dh_malesling.GIF -  Mama to kid.gif DS 6/08 and DS babyboy.gif 9/11  homebirth.jpg

A tad socially awkward redface.gif

Thing1Thing2 is offline  
#9 of 9 Old 06-04-2012, 05:40 AM
 
SpottedFoxx's Avatar
 
Join Date: Feb 2010
Location: Philadelphia Area
Posts: 815
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)

Hoping you get answers!


Walking to raise money for Apraxia - feel free to join me if you are in the area or donate http://www.apraxia-kids.org/southjerseywalk/juliefoxx
SpottedFoxx is offline  
Reply

Tags
Special Needs Parenting

Quick Reply
Message:
Drag and Drop File Upload
Drag files here to attach!
Upload Progress: 0
Options

Register Now

In order to be able to post messages on the Mothering Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
If you do not want to register, fill this field only and the name will be used as user name for your post.
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



User Tag List

Thread Tools
Show Printable Version Show Printable Version
Email this Page Email this Page


Forum Jump: 

Posting Rules  
You may post new threads
You may post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Trackbacks are On
Pingbacks are On
Refbacks are Off