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East Genomics

Bringing together genomic medicine across the East Midlands and East of England

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Rare and Inherited Disease

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Genomic Testing for Rare and Inherited Disease

Genomic testing is being delivered according to the National Genomic Test Directories for Rare and Inherited Disease. Please use the Test Directory to identify the most appropriate test for your patient and add this information to the test referral form.

National Genomic Test Directory for Rare and Inherited Disease Rare and Inherited Disease Test Directory Eligibility Criteria
Order a Test

While the Test Directory aims to provide a comprehensive list of genomic tests, we acknowledge that rarer clinical indications or tests may not be listed. Please contact your Local Genomics Laboratory to get help identifying the appropriate test for your patient.

More Information

Use the links below to find out more information about the Rare and Inherited Disease Test Directory.

Training Sessions – Rare and Inherited Disease
How to use PanelApp

East of England NHS Genomic Medicine Centre

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