Have you done a genetic test for your child?

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Just wondering if any of the parents on WP has done a genetic test of their children and if so what the results were. My son's results came in with a deletion on 22q.11.21 chromosome which I believe somehow is linked to his autism.

It was recommended for my oldest, particularly for PTEN. Which is a really scary one. Basically a guarantee that the person carrying it will get cancer in their lifetime. It's been sort of linked to autism. Not like in a causal relationship, just an association of higher incidence among people diagnosed autistic. The studies looked to me to be pretty small, but are showing something like 5% of ASD people with macrocephaly (which he has) test positive for it (it's way rarer in the general population). I will go through it when we get this current insurance snaggle straightened out.

Edit to add: There are recommendations for increased cancer screenings at a younger age for people with a missing PTEN gene, that could save their lives with early detection and treatment. So knowing involves activity in his case.

Last edited by MiahClone on 09 Aug 2013, 9:46 am, edited 1 time in total.

I don't see the point, in our case, anyway. It would not provide us with any useful information, I would not think.

Chromosome disorders are an intense interest of mine. Your son's condition is linked to autism and NVLD, as well as ADHD. It's actually a very common microdeletion, but few people have heard of it.

In my case, I got tested by 23andme, but I don't think they found any chromosome disorders. Just a big pile of autism-related SNPs.