Rare disease

The National Genomic Test Directoryfor rare and inherited diseases specifies the genomic tests commissioned by the NHS in England for rare and inherited disorders, including eligibility criteria.
The rare and inherited diseases eligibility criteriadocument supplements the National Genomic Test Directory by setting out which patients should be considered for testing based on clinical criteria. The document also advises on which clinical specialties would be expected to request a test, depending on broader clinical indicators.
For information regarding Whole Genome Sequencing for rare and inherited disease in C&S GLH please click here
Information on how to order a rare disease test is detailed below.

Rare Disease Specialist Genomics testing in C&S Genomic Laboratory Hub

The C&S GLH provides local, regional and national testing for clinical indications across multiple specialties services groups, as listed in the Test Directory. Please note that the GLH is comprised of three regional laboratories, based in the West Midlands, Oxford and Wessex. More information on which labs lead on tests for particular specialties is detailed below. Please note, the links below are for information only; information on how to order a test is detailed above.

  • Cardiology associated tests are provided by the ORGL and WRGL
  • Endocrinology associated tests are provided by ORGLWMRGL and WRGL
  • Haematology associated tests are provided by ORGL
  • Inherited cancer associated tests are provided by ORGLWMRGL and WRGL
  • Metabolic associated tests are provided by WMRGL
  • Mitochondrial associated tests are provided by ORGL
  • Musculoskeletal associated tests are provided by the ORGL
  • Neurology associated tests are provided by  ORGL,   WMRGL and WRGL
  • Ophthalmology associated tests are provided by the ORGL and WRGL
  • Respiratory associated tests are provided by WMRGL and WRGL
  • NIPT is provided by WMRGL
  • NIPD is provided by WMRGL