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Genetic testing- has anyone been through this?(5 Posts)
We are seeing a private paediatrician tomorrow for an update on my sons progress ( sadly our local NHS service is on its knees at the moment). Because of his range of needs ( verbal dyspraxia, joint hypermobility, 'soft' signs of other neurological/ neurodevelopmental issues) I'm going to enquire whether there would be any benefits to a clinical genetics referral. This isn't in isolation, as DFIL has just. Sen diagnosed with a neurodegenerative disorder thought to be from a genetic mutation and DH and his brothers had some minor but similar issues as children. We seem to meet the criteria for referral to our local service ( provided by GOSH). What will happen if we are referred? What are the risks/ benefits? Is it normal to be offered genetic counselling before/ after testing? This is all a bit scary for me! TIA
Late to your post I'm afraid but we had genetic testing done after an autism diagnosis but also other difficulties DD had. She had microarray testing that looks at very small sections of the DNA and in her case they found a problem where she is missing a small section of DNA on one chromosome. This deletion was a reasonably new discovery when she was diagnosed and not much was know about it then but a few years on it has a lot more research behind it and we understand a lot more.
I would say yes have it done, it may explain things, it's unlikely to hinder things. I get doubts from people about her issues at times especially when they first meet her - she masks well for a while. It helps there is the genetic diagnosis too, that can't be subjective, it is a clear lab answer. Once or twice it has helped to persuade people the support she needs is very real.
We've just been through exactly the same as beautiful. DS has a couple of very minor physical issues (thumb hypoplasia and heterochromia in one eye) and he had an arrayCGH test where they examine every part of his chromosome under a microscope. They found a smallish deletion on chromosome 6 - at this stage that's about all we know, as it's pretty unusual. There is a charity, Unique, for children and adults with unusual genetic conditions - we haven't joined yet but I understand from a friend of a friend that they are very supportive.
We had genetic testing done last year and it was all clear. However, our paed contacted us a few weeks ago to ask if they could do more. She was pretty vague about it all but I think it may be the micro array as previously mentioned. Still waiting for those results. No counselling was offered and I don't think for friends of ours who got a diagnosis from a mirco array it was offered after however. We are in Scotland though so possibly different where you are. I would get it done if you can, as if it's there, I think it's better to know so you can deal with it and if it's not, it can be ruled out. Very anxious time though I know.
Yes, DD1 was part of the Deciphering Developmental Delay (DDD) project, which was a genetics project examining micro array DNA sequences back in 2011. Nothing came of that for her. Last year we enrolled on the 100,000 genomes project, which is a whole genome mapping project, recruiting 50,000 people with rare genetic disorders and 50,000 people with cancer. They will do a whole genome map, look for specific genes that predispose certain conditions (e.g. the BRCA1/2 gene mutations, the gene mutation responsible for hypercholesterolaemi
The results will take at least a year to start filtering through, so it's a long process though, and they are only expecting a 30% yield, so 70% of participants won't get any extra information.