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Rare Diseases

Fast, accurate diagnosis of rare genetic disorders.

About our Rare Diseases Genomics service

There are thousands of rare genetic conditions for which diagnostic genetic testing is possible.

Our laboratories use powerful new technologies to read the sequence of genes – ranging from highly targeted tests to reading the sequence of all 3 billion DNA bases (whole genome sequencing).

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.

Making a genetic diagnosis can be very important for managing a person’s healthcare and for family members. 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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