Genetic testing with asd and severe learning disability diagnosis

[jess1975]

We are going for genetic testing at the end of the month. Has anyone been with the same diagnosis and what was the outcome.

Thank you.

Hi Jess my dd2 isn't nearly as severe as your ds but she attends a sp sch , we were sent for microarray testing
As her brother is also on the spectrum , sadly it didn't show anything but hugs

Dd has Asd and LD (not sure how severe). They found a microdeletion (very rare only a dozen people known with the same deletion). DP and I were also tested to see if it was passed it on or a new deletion.

good luck with your appointment.

My boy had the blood tests. His only showed low iron count.

Good luck x

There are many many genetic disorders, and a lot of them have autistic features as part of the characteristics of the disorder, or autism as a co morbid. Genetic testing can consist of microarray, cgh and finer more specific testing such as FISH testing ( this is done when there are specific disorders in mind).

My ds has had several genetic tests, he has autistic features and learning disabilities, it was decided early on that there is a genetic cause for his issues, as he has dysmorphic features. So far none of the genetic tests have come back with a confirmed diagnosis (60% of learning disabilities thought to have a genetic cause, have no diagnosis). However he is part of a study into a genetic condition of which he has many of the features, and so that is treated by the professionals as his 'likely diagnosis'

Thank you everyone. He's already been tested for Fragile x and as far as I know had the microarray testing which all came back normal.

We did mention to the Paediatrician that we were thinking of ttc and this is when she mentioned the genetic testing as we had lots of questions for her. She has also said that as far she can see he has no dysmorphic features and its probable that we may not get answers. We're going to see a Professor and she did mention he will probably do more specific testing. Would be good to have some answers but won't get my hopes up! Some interesting information - thanks again!!

Ds has sld and autism. He has been tested and is in a genetic study -the DDD. They did find a duplication on one chromosome but it is shared by non affected family members so probably benign. He has a few minor dysmorphic features that only an expert would spot.

I hope you get some clear cut answers as it hard not to have a dx.