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ASD diagnosis genetic testing?

(7 Posts)
HollyJollyDillydolly Wed 17-May-17 11:25:40

My dd(3.11) has had her mda and had received a diagnosis of asd. This wasn't unexpected but upsetting just the same. The paeditrician wants to refer her for genetic testing to rule out any underlying issues. Has anyone else had their dcs tested for genetic disorders? I understand the main one is Fragile X syndrome? Thanks smile

HollyJollyDillydolly Fri 19-May-17 11:16:48


vickibee Wed 31-May-17 06:42:13

My de had a blood test following his sad dx. The only feedback was he had a normal male profile. Was not really explained what they were testing for.

marriednotdead Wed 31-May-17 07:22:30

My DS was tested after his diagnosis, and then me and his dad. They were looking to see if there was a genetic link as opposed to a random situation.
DS's results showed that he had an extra arm on one of his chromosomes which is commonly seen in people with ASD. My tests came back clear. Ex was tested twice but both times they went missing and AFAIK he never bothered following it up a third time.
However his nephew has autism and his own marked behavioural similarities to DS meant that he accepts that he is almost certainly carrying the gene.

HollyJollyDillydolly Wed 31-May-17 11:23:23

Thanks for the replies. I wasnt sure if the genetic testing would be useful, I'm not convinced they'll even manage her down to take blood, it takes 2 if us to give her Calpol grin

pandyandy1 Wed 31-May-17 22:21:22


My Son was tested for chromosomal abnormalities (micro array?) before diagnosis of Autism, but his tests were 'normal' if you like. No differences identified x

Amuminhongkong Wed 12-Jul-17 17:08:40

That would be very specific genetic disorders. However there is a genetic test called 23andMe which you can order online. Perhaps your GP is doing something similar? The test is extensive and can indicate issues with folate and b12 (amongst other) methylation issues and deficiencies. The most well known is called MTHFR. many autistic kids would have homozygous MTHFR C677T (that is a double mutation on the gene meaning that they require a considerable amount of folate). The other could be compound heterozygous status (like my son). It can help to identify if tests are needed, if there might be deficiencies, detoxing etc, but it's not an exact science unfortunately.

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