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Missing genetic material

(4 Posts)
converseconvert Thu 08-Nov-12 14:21:47

I have just received a letter from DS's consultant advising that further analysis of bloods taken last year to rule out certain conditions have been carried out and they have found evidence that genetic material may be missing from at least one of his chromosones. It states that it is unclear if this has anything to do with his delays so they wish to further investigate by obtaining bloods from myself and exH. I've already booked appointment to have bloods taken next week just need to make sure exH does the same.

Has anybody else had tests done? In general how long does it take for results or is it just another case of how long is a piece of string?

CouthyMowEatingBraiiiiinz Thu 08-Nov-12 14:26:04

I'm marking my place on this thread, I have 3 DC's with Autism, and I suspect that they all have either a deletion or a duplication on one of their chromosomes. I've just seen the GP, who agrees with me, and is going to refer us to the geneticist to have these tests done.

CouthyMowEatingBraiiiiinz Thu 08-Nov-12 14:27:11

Have they said which chromosome? I've done quite a bit of researching on this over the last 8 years.

converseconvert Thu 08-Nov-12 17:57:21

The letter just said missing genetic material. I've left a message for DS's consultant to call me back. Failing that I'm hoping the nurse or doctor who have received instructions from him regarding the blood work will be able to shed some light.

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