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What happens at an in person genetic assessment?

2 replies

Tiredofthis21 · 08/11/2021 13:14

Hi everyone, can someone talk me through what happens at an in person genetic assessment? I'm just curious what's going to happen so I can prepare dd for it. Our background is -

Dd was born with a deformity, genetic testing was recommended to look for a linked condition. Her first appointment fell in the middle of covid so it was done over telephone. They took a complete family history and talked through dd's problems and suggested a chromosomal micro array. While this was being done dd was diagnosed with a serious condition and also discovered another physical defect. We received a letter saying her micro array was clear but because of what had been diagnosed since dd will have another assessment to see if further testing is necessary.

Sorry for the long ramble there, long story short.. later this month she's got the in person assessment. I assume they have the family history on record from last time, or should I be preparing all of that again? Will they look all over dd for any more physical signs? Do I need to prepare dd for the chance they might look at her privates ? (A pediatrician did this as a baby because of a possible linked condition) I assume they don't do anything like x-rays/scans there and then? And if they do decide to do further testing how likely is it they'll do it same day? (Dd has difficult veins and it's taken 2 hours to get blood from her before.)

If you manage to answer one of my million questions, thank you so much Grin

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Imitatingdory · 08/11/2021 14:48

One would hope they would have access to the notes made last time, including your family history, but don't be surprised if they want to recap.

If additional investigations are required simples ones such as X-rays or ECG may be carried out on the same day, but if it would meet DD's needs better you can ask to come back another day. I highly doubt more in depth investigations such as scans will be on the same day.

They may well want to examine DD, I'm sorry I can't answer whether this would include a more intimate examination. For further genetic blood tests such as whole genome sequencing if they stored blood they may already have enough and not need more. If they struggle to get blood ask if they will use ultrasound or a vein scanner.

When we went they also asked to speak to me and DH alone.

Tiredofthis21 · 08/11/2021 15:18

Thank you @Imitatingdory that's very helpful.

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