Genetic testing prior to diagnosis

[Cheesywiggles]

Hi everyone 👋 I'm a long time user but haven't posted very much so please bare with me 🙂
My son is currently going through the process of getting a diagnosis. He was referred to the child development center at our local hospital in 2020. He was referred not long after starting school by the SENCO.
He has only been seen at the hospital twice so far by a pediatrician. I have been told his likely diagnosis will be ASD and potentially ADHD. His second appointment was well overdue , after a lot of chasing I was finally given one for Jan this year. At this appointment it was suggested to me that we had a genetic screening done , I wasn't really given much information about this but I did agree as I assumed it was part of the process. He subsequently had the test done in Feb.
I was told it would be 6-8 weeks ish for results and that was fine. However I hadn't heard anything back , so last week I contacted the pediatrician's secretary. He has since emailed me to let me know that results are currently taking a minimum of 9-10 months to come back! Obviously this was a bit of a surprise after being told 6-8 weeks!
The pediatrician has said she doesn't want to see my son again until the results are back, so we are looking at the end of this year, potentially early next year before he is even going to be seen by the pead again.

Is this the normal process? I assumed it was but after talking to other people and doing some research apparently genetic testing isn't standard procedure. Is that correct does anyone know? Also if any of you have been through genetic testing, have you waited months for results?

I'm so sorry for such a long post! I'm just feeling a bit lost and frustrated with the whole process. I have a meeting with my son's SENCO next week, he is currently in mainstream school. Both the school and us believe my son needs an EHCP but they seem to be putting off putting in the application. They Keep telling me we need to wait for the hospital to diagnose but clearly this is moving at a snails pace! I know the EHCP process can be very hard , long and drawn out so I would like to get it started sooner rather than later obviously!

If you have read this far then thank you! Any advice about any of this would be greatly appreciated!

Genetic bloods (is it an CGH array?) do take longer. Not everyone has them, but it’s not uncommon either to undertake testing as part of the process.

You can request an EHCNA yourself now, you don’t need a diagnosis as they are based on needs, not diagnosis. On their website IPSEA have a model letter you can use.

I'm not sure on the correct terminology tbh I think she said it was a complete genome sequence?
It's good to know it's not that uncommon for the testing to be done.
Yes I have been told I can apply myself , the pediatrician very much advised me against this. However me and my husband have decided we will be going ahead and doing the application ourselves if we can't get the school to start it in the next couple of months. Thank you for taking the time to respond to my post , I really appreciate it 😊

Don’t listen to the paediatrician. Request an EHCNA yourself now, don’t wait months. The process takes 20 weeks if you don’t have to appeal, but many do, some more than once, and the waits for appeal are long.

If it’s whole genome sequencing it isn’t as common as CGH array, but it isn’t unheard of.

Yes your right , I'm going to get onto it this week. We have waited long enough to start the process!
Yes I believe it was the full genome sequencing. I'm not entirely sure why the pediatrician wanted to do it as she wasn't very forthcoming with information. That'll teach me to ask more questions in future!

We had whole genome sequencing done it's rare to get it done first before other genetic testing though the tend to look for specific ones first. My daughter has 15q11.2 microdeletion which is the cause of all her problems however they did 3 sets of genetic testing first one found the 15q11.2 took approx 6 months second lot was the genes that cause epilepsy and rhett syndrome took a year and 3rd the whole genome sequencing was over 2 years for nhs results xx

We had genetic testing done in October and got the results in January. DD1 had already had her genome sequenced as part of research. There are 3 billion letters to look at and I don’t think they look at every gene. First time, they just looked at genes known to cause her condition. Second time they took her blood in October, to confirm the original result; but they also looked at 1,400 more genes. We got the results this week.

DD2 needs to find out if she has the same disease. With a referral request from DD1’s hospital, her GP referred her in February for genetic testing - she’s not had an appointment yet.

By the way, we have been told there is no specialist in the UK dealing with DD1’s disease - nobody knows anything until they read the literature and there isn’t much of it!

PP is right; the school waiting for a diagnosis may be a waste of time, if it turns out to be so rare nobody knows anything about it! It’s much more sensible to focus on meeting the needs now. Imo, the school or LA is procrastinating, so they don’t have to do anything in the meantime, thereby saving money!