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Rare Diseases

Fast, accurate diagnosis of rare genetic disorders.

About our Rare Diseases Genomics service

We use whole genome and whole exome sequencing to examine all 20,000 human genes for mutations or variations in a single test.

Understanding a person’s genetic make-up can help with fast, accurate diagnosis of approximately 10,000 known rare genetic disorders.

Our cutting-edge technology has dramatically reduced the time to diagnosis, meaning patients can more quickly begin personalised treatment and care.


For Clinicians

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