National Genomics Directory for Rare Disease

The 2020/2021 National Genomic Test Directory for rare and inherited diseases specifies the genomic tests commissioned by the NHS in England for rare and inherited disorders, the technology by which they are available, and the patients who will be eligible to access to a test.

The rare and inherited diseases eligibility criteria document supplements the National Genomic Test Directory by setting out which patients should be considered for testing under that indication, and the requesting specialties is a list of the clinical specialties who would be expected to request the test.

More information regarding Whole Genome Sequencing for rare and inherited disease in C&S GLH.