Other specialised Genomic testing

The National Genomics Test Directory for Rare Disease includes more than 500 genetic tests organised in Specialists Service  groups/referral pathways, to facilitate the identification of the most appropriate test for each clinical indication. These are listed below:

  • Core
  • Cardiology
  • Endocrinology
  • Eyes
  • Gastrohepatology
  • Haematology
  • Hearing
  • Immunology
  • Inherited cancer
  • Metabolic
  • Mitochondrial
  • Musculoskeletal
  • Neurology
  • Renal
  • Respiratory
  • Skin
  • NIPT
  •  NIPD
  • Screening

Testing is provided by the seven Genomic Laboratory Hubs across England. WMRGL provides local, regional and national testing for the clinical indications listed below. For information regarding specialised testing that takes place in our partner laboratories in  Oxford and Wessex, please visit their websites directly.

All patients’ samples should be sent to WMRGL; DNA will be extracted and testing will either take place in WMRGL or DNA will forwarded to our allocated provider according to NHS England’s instructions.