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#1 of 10 Old 07-15-2012, 02:24 PM - Thread Starter
 
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Anyone here knowledgeable about the different types? We were urged to test for Fragile X and do a microarray for DS1. He has developmental delays and a soft dx of ASD. Our insurance covers none of it of course. To top it off, we live in a very rural area hundreds of miles from anything other then a basic lab. I am traveling to a metro area this week (7 hours away) and will get the labs done there.

The developmental pedi said DS1 did not show any signs of Fragile X but she would still run the test. I am wanting to make this tests count since it is out of pocket. DS1 has Palmers creases, epicanthal folds, stenotic ear canals, significant speech issues, slight hypotonia, he wears orthotics. I also did no testing during my pg with him at all, I would like to rule out mosiac downs which I hear is not tested for on a microarray. His dx of ASD is soft because he has tons of symptoms except in the social area where we are struggling going to find two. He is a very happy, social ( with adults anyway), always smiling child who just happens to line up cars, pace in circles for hours, along with our things. Should I be pushing for a g branded karyotype instead of fragile x? Genetic testing is out of my knowledge base and all the help I am getting is various calls from the Developmental Clinic staff, none of which is the doc but rather it seems every other person that has no idea what I m talking about.

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#2 of 10 Old 07-16-2012, 04:49 AM
 
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If you are paying out of pocket and the doctor doesn't think it's fragile x then I'd forgo that for the karyotype.  We did the Fragile X and Micro Array but our insurance covered it.  Our son presents initially as on the spectrum but then the specialists say "nope".  Because he has autistic like behaviors, they really wanted the test.  Turns out he has a genetic deletion at 16p11.2.  

 

Good luck!  Oh, if by some chance your child has a 16p deletion or duplication, please reach out to me and I'll put you in touch with some amazing researchers.


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#3 of 10 Old 07-20-2012, 05:44 PM
 
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We have run into this before.  We asked the lab to price out each test and fax me the prices.  I then emailed the prices to the doc and said, these are the tests we ave discussed.  My insurance does not cover them.  Please isolate what my child needs.  The doc was shocked at the prices, and doubled back and did some "rule out" tests first, we ended up not needed the expensive tests.

 

IME, doctors are used to being able to order unlimited labs, and do not really think about the costs.  My question is always, hoe will the result of this test affect our course of treatment?  You would be surprised how many docs told me they would treat the same way regardless of results.


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#4 of 10 Old 07-20-2012, 06:20 PM - Thread Starter
 
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we just did the labs today. The developmental clinic priced out labs for me, we settled on just doing the micro array. We went to a walk in lab facility rather then going through the Children's Hospital where the mark up on lab work was close to 40%.

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#5 of 10 Old 07-23-2012, 12:02 PM
 
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Let us know how everything comes out.  I have found waiting for the results is the worst part.

 

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#6 of 10 Old 07-23-2012, 12:50 PM
 
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Good for you for being an informed consumer!  We need more people like you :)  Let us know when you hear back.  I think my son's results took about 3 weeks.


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#7 of 10 Old 07-24-2012, 06:02 AM - Thread Starter
 
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Just so the info is out there, I used LabCorp which are found all over the US. The staff at the office had never seen or heard of this test before, they treated us like a novelty which was nice because we got ushered in right away. orngtongue.gif

 

 

Thanks Spotted Fox! Always nice to hear warm words on the hard journey that can be SN parenting. This is not my first go around with SNs so I have been slowly becoming informed. Of course none of my children can make it easy and have the same issues, they all have to be different. Figures! DS1 did end up with a  PPD-NOS dx although the hospital was still quite confused by him. He is very atypical, very few social issues, but lots and lots of communication, behaviors, and obsession issues. 


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#8 of 10 Old 07-24-2012, 06:11 AM
 
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Peony - my son had PDD-NOS on and off so many times it was just silly.  For us it was a "here's a diagnosis to get you the services you need but we really don't think he belongs on the spectrum" kind of thing.  It would be interesting if he has 16p11.2 deletion or duplication because for those kids (my kid) having autistic like behaviors is one of the signs.  They don't fit into a box.  Here's info on the deletion/duplication if you are interested... http://www.simonsvipconnect.org/index.php?option=com_content&view=article&id=247&Itemid=313&lang=en


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#9 of 10 Old 08-29-2012, 06:44 PM - Thread Starter
 
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He has a duplication and that is all I know. banghead.gif I don't even have a copy of the testing. We have an appointment with Genetics in 3 weeks. I should get a copy of the results next week. Fun, fun! 


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#10 of 10 Old 08-30-2012, 05:30 AM
 
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{{{hugs}}}  Once you know where the duplication is - you should be able to start researching.   Feel free to PM me if you need help with it.  Understand that a lot of these deletions and/or duplications are considered to be "de novo" meaning it's just one of those things that happen during gestation.


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
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