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Private Genetic Testing in the UK - where?

8 replies

GeneTestQ · 24/02/2023 16:50

We’re TTC and due to both of our families having uncles/aunts/sibling who have had various unknown conditions (one died unexpectedly at 2 days old, two stopped walking/talking at 2 and 3y/o and died aged 7 and 9), we were keen to have genetic testing done to identify any potential genetic conditions which we may be carrying.

I can’t find online any information on having this done privately. Can anyone advise where we can look to have this done in the UK?

OP posts:
Orangesandlemons77 · 24/02/2023 17:05

I did testing with 23andme which told me I have an APOE4 gene linked to dementia.

Orangesandlemons77 · 24/02/2023 17:06

I am unsure if this is suitable for what you are looking for though.

RandomMess · 24/02/2023 17:42

Presumably you've tried to be referred via the NHS and that's a no go at the moment? Sad

GeneTestQ · 24/02/2023 18:17

Thanks anyway @Orangesandlemons77 - i’ll look into it!

@RandomMess Yes we’ve tried - as they were undiagnosed and neither of us have health concerns which could be linked to a condition, they have basically said it’s not justified and isn’t a cause for concern. For us, we just want piece of mind.

OP posts:
Kaiken · 25/02/2023 07:55

23andMe doesn't do the whole genome sequencing the way you intend it. it wouldn't detect a vast number of genetic disorders such as the one I have called NF1 .
The number of genetic disorders is so vast, you need to be more specific, and was any testing done on those poor children who died? Were they all 3 siblings? You need a genetic counsellor or a geneticist to bring that number down.
Some labs such as Invitae in the US do genetic testing and they offer their own genetic counsellor.
Try asking on reddit here www.reddit.com/r/genetics/ and here www.reddit.com/r/ClinicalGenetics/ but you need to be specific about these children's gender (some disorders are single sex) , abnormal facial features (if any) growth disorder, and so on and of course the degree of relationship because some disorders are dominant and do not skip generations.
Also were other children born by same parents without issues?
Genetics is so complex. You need a professional and maybe you could ask how to get a consultation when denied by NHS.

TotallyWhatever · 25/02/2023 08:00

How worrying for you. I agree 23&me isn’t going to give full picture. Why don’t you look up the names of clinical geneticists at your nearest children’s hospital, and then see them privately. Great Ormond Street list several on their website.

NameOchangeO1 · 25/02/2023 08:02

Speak to CRGH in London. They do something called "Carrier match" which is about identifying genes carried by both parents that could become an issue.

Chewbecca · 25/02/2023 09:32

I don't think it's feasible to look for any abnormal gene, there are just too many.

We have had genetic testing done (NHS). My child had strong indicators of a specific disorder and they tested him to identify which of that range of genes were faulty. This took a couple of months. He is now the 'index case' for our family.
Then the rest of the family have been tested but they only look at the one known faulty gene. It still takes weeks at a time!

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