Genomics in Rare Disease

Genomic testing has the potential to transform families’ lives. As well as providing patients with an explanation for their features, a genetic diagnosis can help healthcare professionals  know how best to support them. The diagnosis may also enable families to connect with others in a similar situation, and provide parents with an understanding of their chances of having another child with the same condition. Read Kirsty’s story here.

We are here to support healthcare professionals to order genomic tests for their patients. Check out the links and resources below!

Specialty-specific Resources

We are in the process of developing a series of pages to support healthcare professionals working within specialties. This list is being regularly updated so do check again soon if your specialty is not listed.

Educational sessions

We deliver a range of educational sessions. Use the links below to sign up for up-coming events or watch recordings of previous sessions.

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