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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

100,000 Genome Project

0 replies

Quisquam · 07/11/2022 18:52

I was reading a closed thread and Lougle said in 2020, she didn’t get an answer.

We got an answer 2 weeks ago. We were told, it had taken them years to sequence the genome for each participant, because it was so much data!

They rang us up to call us in for a “genetics” appointment. They told us they can’t look at every gene; they just look at the genes known to cause the participant’s condition. They told us they had found something.

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