genetic testing - confused.com

[MandiH69]

Hi -first post so please bear with me!! My Ds (4) has recently had an array cgh test done as his geneticist thinks he has a very rare genetic disorder. 3 months down the line, I get a letter saying that there were no results within 'quality control parameters', or something similar and that they needed another blood sample to repeat it. Does anyone know what this means, and does this mean another 3 months of waiting. did they find nothing and are double checking or something weird?? Help please!!

Hi Mandi. Welcome to the board. I'm not sure that anyone apart from the Genetics team are going to be able to answer that question . Could you contact your Geneticist on Monday and ask them what, if anything, they've found and tell ask them very nicely to expedite the second set of tests?

Sorry that's probably really unhelpful, I just think we'd be second-guessing unless there's some kind of Genetics code-speak that someone on here is familiar with!

My DD has a v rare chromo disorder so I do relate to the interminable wait for results followed, in our case, by being given the results over the phone by the Paed's secretary who could not answer any Qs.

Good luck

Mandi it could mean that the sample was ruined.

We had a simrtunatelilar letter for ds after blood tests for some specific conditions. Unfortunately in our case it meant that the samples were unusable as they had been damaged in transit, so we had to redo 8 of the 12 samples originally taken.

I would call your paed/geneticist (or genetics nurse) though to ask.

sorry i have no idea what simrtunatelilar is, should be 'similar'

Too many smarties maybe Hazey?

yes that's right it's the smarties....ahem.

I also think it sounds like the sample was tainted somehow and they therefore couldn't get an accurate result.

I would ring your geneticist though, they will understand your frustration and I'm sure won't mind clarifying.

Must be very worrying for you, so sorry you're going through this.