CGH Array to help with diagnosis

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M2AZ
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27 Oct 2012, 6:21 pm

My paediatrician recommended my daughter have a blood test so that we could have CGH Array Analysis done to help determine if there are genetic factors involved in her behavioural issues.
Has anybody else had this done?
We had the blood test done last week and have been told it can take up to 3 months to get the results.
Would love to hear from anyone else who has had it done and what the outcome was.
Thank you



Eureka-C
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29 Oct 2012, 11:33 am

I have not, nor has anyone I have known. Is there some other factor that makes the doctor believe the behaviors are representative of a known genetic disorder?



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29 Oct 2012, 1:19 pm

I haven't either.

Here's what it says on Wikipedia; "The large number of autistic individuals with unaffected family members may result from copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis that delete or duplicate genetic material.[11][12] Sporadic (non-inherited) cases have been examined to identify candidate genetic loci involved in autism. Using array comparative genomic hybridization (array CGH), a technique for detecting CNVs, one study found them in 10% of families with one affected child.[13] Some of the altered loci had been identified in previous studies of inherited autism; many were unique to the sporadic cases examined in this study. Hence, a substantial fraction of autism may be highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.[10]

"Although the fraction of autism traceable to a genetic cause may grow to 30–40% as the resolution of array CGH improves,[10] several results in this area have been described incautiously, possibly misleading the public into thinking that a large proportion of autism is caused by CNVs and is detectable via array CGH, or that detecting CNVs is tantamount to a genetic diagnosis."

I find this interesting, not in order to "control the spread of autism" as I have read (I find that very troubling and insulting) but because I find any kind of biological definition of autism helps with better diagnosis. Sometimes I wish there were simple tests (blood tests, brain scans) that could help children be diagnosed earlier and faster so that schools and health departments would provide services.
J.



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29 Oct 2012, 7:58 pm

M2AZ wrote:
My paediatrician recommended my daughter have a blood test so that we could have CGH Array Analysis done to help determine if there are genetic factors involved in her behavioural issues.
Has anybody else had this done?
We had the blood test done last week and have been told it can take up to 3 months to get the results.
Would love to hear from anyone else who has had it done and what the outcome was.
Thank you


Hi,

My 3 yr old had this done right on his 3rd birthday. The test Array CGH came back "negative" (normal).

They ran this test just to make sure that he did not have any chromosonal abnormalities, and because they could not understand why he was not talking, despite having excellent hearing and having received EI services.

Once this was done, the pediatrician then ordered the Fragile X test, which also came back as "negative" (normal).

With these two tests, they completely ruled out genetic causes for his delays in development, and ruled the cause "unknown".

It was difficult waiting for these results to come back, but when they did, it was a HUGE weight off my shoulders. My boy is genetically a fine specimen, and we just have to keep working and working and working with him until his delays are bridged and he catches up. One day. Some day,

One day at a time, one step in front of the other.



M2AZ
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05 Nov 2012, 4:11 am

Thanks very much for the replies. Im not really sure why it was recommended - we do have a family history of mental illness but no other confirmed ASD in the family.



Ettina
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07 Nov 2012, 6:07 pm

If your kid does have a genetic cause of autism, that could tell you more about what to expect. For example, whether they are at risk for any health problems, or what kind of functioning they may have in adulthood. Although if it's something really rare, knowing about it doesn't help that much because there's no information about it.



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Deinonychus
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08 Nov 2012, 6:16 pm

I think researchers are also trying to collect a lot of information, which is a good thing. Even if they can't make a prognosis for your child based on this test, some day it might help.