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Musculoskeletal disorders

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

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.

  • 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
  • R416 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, Greig syndrome and other syndromes with digit anomalies (contact laboratory for details)
  • R415 Cleidocranial dysplasia (RUNX2 sequencing and dosage analysis)

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.

Last reviewed:23 April 2024