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.
