Genetics question

kcisthebombdotcom · May 2013

What comes after the microarray? My Dds results were normal though her neuro strongly believes that there's an underlying chromosomal abnormality due to her almond, wide set eyes that dh and I don't have, language delays, hypotonia, and her recent dx of epilepsy.

our game plan was to do the microarray, wait nine months to see how she progresses then talk about doing further testing if she's still lagging behind. With the added info I want to push for this sooner-I'm just curious as to what is next.

Assembly_Reqd · May 2013

I think exome sequencing is more detailed than microarray. It is cheaper than whole genome sequencing.

I am not sure you would get a smoking gun out of that though. You might end up with several 'smokers' that are totally unhelpful or lead to dead ends.

The other option is to wait a few years for the science to catch up. A dx is nice, but is in no way a predictor of outcomes anyway.

What does the geneticist recommend based on your child's phenotype?

kcisthebombdotcom · May 2013

Assembly_Reqd:
I think exome sequencing is more detailed than microarray. It is cheaper than whole genome sequencing.
I am not sure you would get a smoking gun out of that though. You might end up with several 'smokers' that are totally unhelpful or lead to dead ends.
The other option is to wait a few years for the science to catch up. A dx is nice, but is in no way a predictor of outcomes anyway.
What does the geneticist recommend based on your child's phenotype?

she was guessing something with chromosome 16 but she was wrong.

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