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Statewide Sequencing Service

Whole Exome Sequencing changing the future of health.

About our Statewide Sequencing service

We provide a Whole Exome Sequencing service which gives clinicians, their patients and families more accurate diagnosis of rare diseases. Providing faster, more precise diagnosis gives patients the best opportunity to receive individualised, precision medicine.

Our service provides diagnostic sequencing for rare diseases, reproductive genomics, cancer and for research.

Whole exome sequencing 

The exome is the coding section of DNA and makes up about 1-2% of a person’s entire genome. Exome sequencing uses a technique that allows many overlapping small sections of DNA to be sequenced at the same time. The exome is thought to contain most pathogenic variants. Analysing only 1-2% of the genome greatly reduces the amount of information to be filtered (sorted) and resources needed to do the test.

Whole genome sequencing

This is a similar type of test to whole exome S\sequencing but instead looks at the whole of a person’s genome. This is all genes as well as the regions in-between. This may identify more types of variants that cause a genetic condition.

Fact sheets


For Clinicians

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