Useful Links


Department of Health

NHS and Commissioning

Umbrella Patient Organisations

Individual support groups for specific conditions can be found through these links.

National Genetics Reference Laboratories

Practical Resources

  • GeneTests - a publicly funded medical genetics information resource
  • Lab Tests Online UK - a public resource on clinical lab testing
  • Orphanet - a database of rare diseases and orphan drugs
  • NIH Genetic Test Registry - a central location for voluntary submission of genetic test information by providers 
  • UKNSC - UK National Screening Committee


  • HGNC - the HUGO gene nomenclature committee
  • OMIM - a catalog of human genes and genetic disorders

Quality Assurance

  • CPA - Clinical Pathology Accreditation
  • EMQN - European Molecular Genetics Quality Network
  • UK NEQAS - United Kingdom National External Quality Assessment Service


  • BIMDG - British Inherited Metabolic Disease Group
  • MetBioNet - the National Metabolic Biochemistry Network
  • NICE - National Institute of Clinical Excellence
  • Nowgen - a centre for genetics in healthcare
  • PHG Foundation - organisation aiming to make science work for health