Another geneticist thread... what are they looking for?

[StephandOwen]

DS has an order to get "genetic testing" done (silly me didn't ask what, exactly, they are doing).

The geneticist felt that we should do said "genetic testing" because of ds's developmental delays (speech delay and autistic like behaviours (has been diagnosed with autism, getting re-evaluated next month) being the biggest).

I was just pm'ing another member about Klinefelter's Syndrome and it got me thinking.... I wonder what they are looking for? So, hit me with it.... what kind of things are they looking for? I want the nitty gritty.... names of syndromes that are often mis-diagnosed as autism.

[2boyzmama]

VCFS, what my son has, has behavioral components that are sometimes autistic-like. I was reading in one of the many pages I've visited (not sure if it's the one in my siggy or not) that VCFS kids may be more prone to autism.

Also, with the debate of whether there may be a genetic link to Autism, they may just want you to discuss your son's specifics with a geneticist. My son's syndrome was "discovered" because enough drs did genetic tests on enough kids with similar symptoms and discovered the same micro deletion.

Tell us how the appt goes.

[lil_stinkyfeet]

Why don't you just call and ask them exactly what they are looking for? At least then you would have for sure specific names to google That is what I would do anyways. If I didn't know exactly what they were looking for I would just google anything in that ballpark and really go to town with it. NOT GOOD

[peekyboo]

Lots of syndromes have autistic features as part of their laundry list. They'll probably just do a kareotype, to see if there are any duplicates or missing genes.

Unless they give you something specific, name wise, don't make yourself crazy looking on the internet. There's just way too many things out there a mom can keep herself up all night wondering about!

[cchrissyy]

most likely it's chromosome analysis, which is with autism they're looking mainly for fragile X and 22Q (22q10?)

there is much more possible in genetic tetsing, but that's the usual begining.