Genetic Tests

[Madoldbird]

Hi, DS is having blood taken next week for genetic testing. Apart from not looking forward to physically getting the blood from him (guess we have to just pin him down while they get on with it , although they numb the area) I wonder if anyone can answer a couple of questions for me?

The paed has ordered karotype tests and FISH tests. Now, from googling, it seems that the karotype is a sort of "photo" of the chromosomes, but i'm struggling to work out what the FISH test is? Also, will these tests show the majority of chromosomal problems, or are there other tests after that?

Secondly, those who have been through it, how were the results communicated to you? Did you get sent the results, or did you have to get them from the paed? We're not due to see her for a few months, as she wanted to get some further referrals (e.g. geneticist, neurology ,etc) done first. So i was wondering how the blood test results are normally communicated?

Sorry for all the questions

Fluorescence in situ hybridization (FISH)
hello
We have been through genetic testing twice - the first time it was done via a geneticist who then rang me with the results with a follow up meeting to discuss more.

The second time was done via a paediatrician and we had a meeting with him to discuss the results.

Have googled Fish ( because even though we had it done both times - I cannot for the life of me tell you what it is!!) and have c&p'd and explanation below:

Testing: Fluorescence in situ hybridization, also called FISH, is a technique that uses a specific protein, called a probe, that has been designed to "stick" to unique DNA in a cell. These probes are fluorescent, meaning they glow with a special dye. Laboratory personnel can then examine the cells under a microscope. FISH is currently used to detect the common chromosome problems caused by an extra chromosome (aneuploidy), such as Down syndrome (trisomy 21), and in prenatal diagnosis when results are needed rapidly. FISH can also be used to detect subtle chromosome rearrangements, identify marker chromosomes (extra pieces of unidentified chromosomal material), and test for common syndromes caused by duplication or deletions of large pieces of DNA.3

Who is taking your ds's blood and how old is he? my youngest had blood taken last week and genuinely didn't notice (despite having the most non-existent veins ever) - 3 play therapist nurses made it seem like a piece of cake - honestly!

Hi, my ds2 had his condition diagnosed from the FISH test, the results from this can take longer to get as it is more intricate than the normal tests (or so we were told).
The geneticist herself phoned me up with the results and saw us in clinic a couple of days later. The paediatrician also phoned and made an apt for the following week.

DS2 has a deletion of one of his chromosomes (di-George syndrome) and tbh getting the diagnosis has been life changing for him and us as we now have a plan iyswim.

As for getting the blood, well it isn't pleasant but if it's the first time he has had blood taken it shouldn't be too bad. It's the next time that can be a problem as they remember!!

Hope all works out for you.

Thanks to you both for all that info.

slightlycrumpled it's good to hear that getting a diagnosis has been a positive step. We have been half wondering about not putting him through all this, but as you say it potentially makes future help and support easier and more focussed.

FnD Thanks for that explanation, i couldn't find anything like that when i googled. DS is 15m and he's having it taken at the local hospital on the children's ward. So they should be well practised!!

Thanks again

Ooh childrens ward will be good as they will almost certainly have a play specialist to help with distraction. Good luck with it all.

my local kids ward had a play nurse ,so they distracted him whilst they took his blood

Hi all,

this threat has been helpful to me.
We are going through the same thing with 15m old DD. I find it hard to cope with the uncertainty and the waiting (2 month before we get results). I am scared of the results and found your comment about "life changing"
very helpful. I think I would find an affirmation "life changing" in a negative sense, in the sense of life not going as I had hoped for, IYSWIM. Obviously, I wouldn't love her less, but it will change everything, doesn't it? Madoldbrif and FnD, what were you outcomes and how are you copying?
I am still very much in the process of coming to terms (or not coming to terms?) with the whole situation.

Hi glimmer - we are going through the same! Our first set of results are due back before the end of January. I have a constant nervy tummy (night before an exam type) and rush to the door every morning looking for the brown envelope in case they post the results! We have been given a suggested condition and it came as a huge shock - I think I cried constantly for a month but I must admit I'm in a much better place now than I was 4 months ago. I feel prepared for the dx and am well on my way to coming to terms with what for us is the very worst case scenario we could have imagined when ds's problems first became apparent. Still hoping that what has been suggested isn't the case but if it is we're ready for it. Anyway just wanted to say it does get better, wishing you all the best!