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Genetics testing - any experiences on the nhs?

(49 Posts)
2boysnamedR Mon 24-Feb-14 13:28:35

Ds 2 (6) and ds 3 (23 months) both have sn and dyspraxia. Went to see the neuro disability pead today who gave us paperwork for the bloods and genetics.

When I handed it to the nurse it only asked for fragile x. I told the nurse as baby is not yet two couldn't he have a more comprehensive genetics screen as I know dyspraxic kids who have rare deletions. I don't want to have bloods drawn twice for fragile x then a full screen at a later date.

The nurse said she will ask the pead for me. So has anyone had a full genetics screen on nhs or am I asking for to much? I didn't ask for the screen it was offered to us but I don't see the point in only looking for fragile x?

I asked if they could draw a vial and I pay for private screening but my hospital won't draw bloods for private tests.

iwanttoscream Mon 24-Feb-14 13:36:44

My dd had fragile x test the pead also did a full screen. Which ended up with a small deletion on chromosome 5 or was it 15 it was years ago.
Was offered parental screening but we declined the offer. DH wasn't keen.
Fragile x test came back negative.
They should be able to do both tests together.

Geneticsbunny Mon 24-Feb-14 13:42:48

hi. once the blood has reached the lab, DNA from your children will be stored indefinitely unless you ask for it to be thrown away. so they can test for other things later on with having to take more blood. fragile x testing is becoming less common as basically they never/very rarely found anyone with the disorder. where we are, if there are learning difficulties and other features which make it look likely to be something genetic then they do an array. this looks at all the DNA and sounds like the full screen you mention. an array is much more sensible than fragile x testing. in Yorkshire they are funded but the testing can take a while. not sure about elsewhere. definitely worth asking your genetic consultant or genetic nurse about.

Geneticsbunny Mon 24-Feb-14 13:43:50

stupid phone. please excuse the lack of caps.

2boysnamedR Mon 24-Feb-14 13:44:21

Thanks, I would have thought so to. Really the difference makes no odds as what can I do anyway - but if there is a genetics issue and they are testing why not do a complete test? Maybe the boys will want to know when they have kids

Geneticsbunny Mon 24-Feb-14 13:49:51

a private lab can request some of the DNA stored at the NHS lab with your consent

mumsuz Mon 24-Feb-14 14:02:24

We got referred to a geneticist who did a full array plus tested for fragile X and angleman. I think one of the consultants at the child development centre made the referral so perhaps you could ask for a professional referral? DD doesnt have a diagnosis yet.

The geneticist also told us about a project called DDD (deciphering developmental disorders) which I think is a countrywide thing, looking at genes. It a long term thing though so wouldnt give any immediate answers.

2boysnamedR Mon 24-Feb-14 14:05:23

Thanks genetics, neither boys have any physical aspects of fragile x. I think we have just had a bum deal twice but it does make me wonder why my first is a genius then the next two are sn. Maybe ds1 took all the clever genes

bluebirdonmyshoulder Mon 24-Feb-14 14:05:41

We had a full test / array whatever on the NHS. They mentioned 22q but then something completely different showed up so it must have been a full test.

I hope you get some answers.

2boysnamedR Mon 24-Feb-14 14:17:41

Thanks. Don't know why but I hope it's clear. Genetics issue feels to final and in curable today. Not that you can cure dyspraxia anyway so that's just me being stupid. Some days are harder to get my head round than others

chocnomore Mon 24-Feb-14 14:36:09

we had I think micro array testing. paed referred us on to another hospital for genetic testing. they discovered a very rare microdeletion in Dd.

before wr had testing we had proper counceling. the Dr explained the tests to us quiete in detail (as far as you can explain it to lay people) and also what happens if something comes up/nothing comes us.they took a very detailed family history. I was really impressed.

just looking for frax is a it superficual i think.
maybe you should ask for a referral to the geneticist.

lougle Mon 24-Feb-14 14:57:32

DD1 has subtle but significant changes in the physical structure of her brain. She also has many subtle but interesting physical features throughout her body (skin unusually prone to marking, curved fingers, slightly odd toes, flattened bridge of nose, epicanthal folds, etc.). The Geneticist is 'certain' that her issue is a genetic one.

She's had micro array done (NHS)
Fragile X (done for most children with LD) - NHS
Angelmans (love of water) -NHS
Atypical Angelmans (paed wanted to be sure) -NHS

She's in the DDD study, so has had masses of tests at a very high standard.

Still no answers what so ever.

2boysnamedR Mon 24-Feb-14 15:14:17

Hmm - no mention of genetics counciling to me. I have a biology degree so I know what's involved and where it's leads ( no where - you cannot unpick your DNA).

Both boys have mid line defects. Enlarged ventricles during gestation. Mild spina bifida in the form of sacral dimples ( very low thank god). Tounge tie etc. baby has a massive head but that's it.

I did study ds a lot last year but nothing ties in with any know genetic issues. I was reading that as they map the human genome they are finding some common autistic genes. It's all of no use really - unless they then go on to have sn kids. Those grand kids could have genetics testing and voila! No more trying to convince the nhs it not in someone's mind.

I think the truth is there is no simple answers out there for me. It's a mix of luck, genes and maybe a bit of a few more things.

If anything comes up with genetics it's not being leaving these four walls as that's where finger pointing comes into play. It's from YOUR family etc. but so what? No one in either family has a history of dyspraxia. Still I don't want me or dh to hear that's its down to one of us in particular.

Geneticsbunny Mon 24-Feb-14 16:12:42

Just wanted to add a positive thing about genetic disorders. My DS has an identified genetic disorder and it means that there are good effective treatments available and that we have a reasonable idea about how he will develop when he is older. So in some ways it is good.

hazeyjane Mon 24-Feb-14 16:16:33

Fragile x is one of the first tests they always do, then a micro array. Ds had his blood taken for genetics and that sample has been used for several different genetics tests. He then had a cgh array and FISH testing -they have still not picked anything up, but are still convinced he has a genetic cause for his problems. He is part of a study into a syndrome which is so new that they haven't finished the research into all the novel candidate genes that could be involved in a diagnosis - but because he has all the features of this syndrome, he has been given a 'likely diagnosis'.

In order to fully test for genetic conditions it is like searching for one word spelt the wrong way round amongst a library full of books, it is very difficult to test for all different conditions as there are so many different deletion and duplications and that is why they test for the most obvious ones, and the ones that may be specific to your child depending on feature (eg no speech, hypotonia, preauricular pits, epicanthic folds etc). The problem with this is that many conditions share features, also if your child has a mosaic form of the condition, it may not affect all the cells, so may only be apparent in skin cells or brain cells etc.

Something like the DDD study (which ds is also involved in) is important because it can compare so many different children ( I think they are hoping for 15,000) in the study, and will have access to all the latest tests which will then be applied to your child's DNA.

Many genetic conditions have no familial link, and are de novo (ie a new mutation and not coming from the mother or father).

Genetics is such a new and ever changing field that it can take years to get a diagnosis, if at all.
It is thought that about half of children with learning disabilities and in approximately 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties. As many as 50% of children who are in contact with NHS Regional Genetics Services may not get a diagnosis. (from SWAN UK - Syndromes Without A Name)

hazeyjane Mon 24-Feb-14 16:20:18

Sorry cross posted with GeneticsBunny - it can also be that someone has a deletion or duplication which is unique. A friend's ds has learning difficulties, and has a mosaic deletion, it is the only mosaic form of this deletion recorded, as most children with the non mosaic form don't carry to term. It is an odd place for her to be, as there are no other people to compare as far as what the future holds.

Unique here is a good website.

chocnomore Mon 24-Feb-14 16:21:13

I am glad we went. there is quiet a bit of research into the kind of underlying issue Dd has (so one day something might come up in term of medication). also, if Dd would ever go on to have children (unlikly), she would have a 50% chance of passing it on and the geneticist mentioned preimplantation genetic screening.I do not hink Dd will ever cross that bridge but if she does, we know our options.

2boysnamedR Mon 24-Feb-14 16:38:23

I was thinking about ds having PDg ivf for children if it was fragile x, but who would want to go through that willingly for the sake of dyspraxia as I'm not sure i would.

The pead just phoned me and said he will be tested for known current genetics sn issues.

I was thinking about he basics like does he have 46 chromosomes and are they all the right shape / size. Didn't really think about mosaics or down to gene level.

I would love to back to uni and work in this field. It's so interesting. I know that only get mutations in every thousand or so copies so its amazing stuff.

Geneticsbunny Mon 24-Feb-14 17:03:37

I do work in the field. It is very interesting but pretty tricky to get into these days. Feel free to ask if you have any more specific questions about genetic testing and i will try to answer. Sounds like the paed is sending it for arrays? Which will look for small deletions and duplications throughout the genome.

Geneticsbunny Mon 24-Feb-14 17:06:37

If they only ok one blood sample in a purple topped tube then they are probably doing arrays. If they took blood in a green or orange tube too then they might be looking at the chromosomes for larger more obvious changes but these are normally seen in children with more severe features.

Geneticsbunny Mon 24-Feb-14 17:07:08

Ok should be took obviously

hazeyjane Mon 24-Feb-14 18:25:55

GeneticsBunny - you work in the field.....apologies then for my half-assed ramblings about genetic testingblush

2boysnamedR Mon 24-Feb-14 18:31:10

Sounds like a exciting job - I only got down to chromosome extractions on my degree - but it was environmental biology. Plant DNA lol! I was terrified of the centrifuge...

Yes I think it's the whole array from what she said tonight. I will take a mental note of the tube tops - or dh will. Not sure i could see bubs in pain :0(

Thanks

SanctiMoanyArse Mon 24-Feb-14 18:31:53

A lot of it seems to be regional as well.

We're getting results next week for full array other friends in different regions have been refused with our diagnoses (indeed, a friend with 2 asd and one chromosomal abnormality has been refused with a different paed) we already have had karyotypes which showed mutation, family has 2 x asd dx and expecting a third and probably fourth in next 12 months.

Geneticsbunny Mon 24-Feb-14 18:48:45

hazey it was a really good explanation. You obviously have a good grasp of how it all works.

2boys yes I really enjoy it but glad to be having some time off on mat leave at the moment. Things are changing so quickly in the field at the moment though. Just hope I can catch up when I go back.

I guess people could ask to be referred elsewhere? You can ask to be seen by anyone so people could ask to be seen by a consultant who is more pro testing? Funding might still be an issue as it is based on where you live but the consultant could help fight your corner. To be honest individual cases can seem quite similar and actually be really different so array testing just might OT be the best option for some people.

within 5 years it will be reasonable for people to be having their whole genome sequenced and an array done on the nhs so all unusual changes will be identified. The difficult bit is then working out which one/s are causing the problems.

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