Developmental disorders Genomic testing

The WMRGL provides local, regional or national testing commissioned by the NHS in England for the 10 clinical indications listed below in the Test Directory  for developmental disorders,  and provides testing for any private referral clinical indications. Please check the eligibility criteria before referring via the NHS.

  • R26 Likely common aneuploidy
  • R27 Congenital malformation and dysmorphism syndromes (microarray and sequencing)
  • R28 Congenital malformation and dysmorphism syndromes (microarray only)
  • R29 Intellectual disability (microarray, Fragile X and sequencing)
  • R377 Intellectual disability (microarray only)
  • R47 Angelman syndrome
  • R48 Prader-Willi Syndrome
  • R53 Fragile X 
  • R69 Hypotonic Infant
  • R312 Parental sequencing for lethal autosomal recessive disorders

The complete 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer, including eligibility criteria, can be accessed here.