Updated National Genomic Test Directory for rare and inherited diseases published in England

06

Sep 2022

On August 11, 2022, NHS England and NHS Improvement released an updated National Genomic Test Directory for rare and inherited diseases (version 3.1), which lists genomic tests commissioned by NHS England via Genomic Laboratory Hubs.

Two documents within the Directory were updated, specifying tests codes, clinical indications, the technology by which tests are available, and eligibility criteria for patients:

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

No new codes (test-indication combinations) were introduced. Amendments were made for 14 codes, including target genes, test methods, wording, and others.

See the full details here.

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