Musculoskeletal disorders

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.

Research

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