Skip to main content
Oxford University Hospitals NHS Foundation Trust

Alert Coronavirus / COVID-19

If you have a new continuous cough, a high temperature, or a loss or change to your sense of taste or smell, do not come to our hospitals. Follow the national advice on coronavirus (COVID-19).

Please find information on our services and visiting restrictions in our COVID-19 section.

Patients and visitors must wear a face covering in our hospitals.

This site is best viewed with a modern browser. You appear to be using an old version of Internet Explorer.

Musculoskeletal disorders

The laboratories provide the following services (R codes relate to the NHS England National Genomic Test Directory).

  • R24 Achondroplasia (FGFR3)
  • R382 Hypochondroplasia (FGFR3)
  • R25 Thanatophoric dysplasia (FGFR3)
  • R23 Apert syndrome (FGFR2)
  • R52 Short stature - SHOX deficiency (SHOX)
  • R390 Multiple exostoses (EXT1 and EXT2)
  • R99 Common craniosynostosis syndromes
  • R100 Rare craniosynostosis syndromes
  • Non-syndromic metopic/sagittal synostosis (SMAD6)
  • R104 Skeletal Dysplasia - prior to full implementation of WGS, interim tests are available for Robinow syndrome, Treacher-Collins syndrome, Cleidocranial dysplasia, Greig syndrome and other syndromes with digit anomalies (contact laboratory for details)

Testing for previously identified familial variants, as clinically appropriate, is available.

For non NHS test requests, individual gene / syndrome testing is available on request, as appropriate.


The laboratory works closely with Professor Andrew Wilkie's research group at the Weatherall Institute of Molecular Medicine, University of Oxford.