genonimics england study

[mary21]

Does anyone know much about this.
We have been invited to participate. DS aren't swans but have an inherited condition although we don't know about the inheritance pattern.

[Kanga59]

I'm in the 100,000 genomes project. is that what you mean?

[Waitingforsleep]

I would like to know about that project as we have been asked too after being refused a nf1 blood test

[Kanga59]

What's an nf1 blood test?

Here's some info on the 100,000 genomes project. Access to the project is via your consultant.

www.genomicsengland.co.uk/the-100000-genomes-project/

[Rockclimbingtigger]

We're also part of the 100K project with my son. Had bloods done 2 months ago so probably won't hear anything for a year we've been told.

[Penguina]

We are on it. Had bloods done in February.

I doubt it will find anything though and we gave been told that. Dd is a Swan although I still believe it was to do with birth, no hcp will entertain that idea

[deaddeadgood]

We're joining this. Looking forward to finding out what's going to kill my child early

[Mumto2two]

Our daughter has just been forwarded onto this programme. Hoping for some answers, but have been told it could take upto 2 years!
Her case had to be put forward by a multi disciplinary team at the tertiary hospital she attends. Has taken 8 years and 30 plus hospital admissions to get to this point

[Notthisnotthat]

We've just had our blood tests for this study too.