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Genetic testing?

2 replies

MrsSpoon79 · 05/12/2023 21:00

My son is autistic, he has adhd, dyslexia, meares irlen syndrome, dental hypoplasia, hypotonia (low muscle tone) and has significant learning delays particularly in literacy.

Today I found out about a genetic anomaly called 48 XXYY. It feels like my son ticks a lot of the boxes but no one (pediatrician/psychiatrist etc) has ever suggested genetic testing.

en.m.wikipedia.org/wiki/XXYY_syndrome

I'd be keen to know if I could get genetic testing done for my.son. has anyone ever arranged this privately?

Does anyone have experience of 48XXYY?

OP posts:
BlueBrick · 05/12/2023 23:49

Is DS still under paeds? If so, I would directly ask them. If not, start with your GP. Ask if they can refer to genetics and if they can, will they refer. If they can’t directly refer to genetics, ask for a referral back to paeds.

SiouxsieSiouxStiletto · 11/12/2023 17:05

Our GP has referred DS for Genetic Testing after I pointed out that his skin condition and ADHD could both be due to a micro deletion. It's taking quite a while to happen but he only really needs it if he's planning on having DC, which I sincerely hope he's not at the minute! Grin

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