Updated 2021/22 National Genomic Test Directory for rare and inherited diseases in England

The National Genomic Test Directory lists genomic tests commissioned by NHS England via Genomic Laboratory Hubs. Three documents are available specifying tests codes, clinical indications, the technology by which tests are available, and eligibility criteria for patients:

• National Genomic Test Directory for cancer;
• National Genomic Test Directory for rare and inherited diseases;
• Rare and inherited disease eligibility criteria.

On February 02, 2022, NHS England updated the 2021/22 National Genomic Test Directory for rare and inherited diseases, initially published in October 2021. No new codes (test-indication combinations) were introduced. Amendments were made in 77 codes, including changing the test method, commissioning category, and specialist group.

The release of the 2022/23 National Genomic Test Directory is scheduled for April 2022.

See the full details here.

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