Intellectual Disability Service (WGS/WES) and Congenital Malformations and/or Dysmorphism (WGS/WES)
From Monday the 16th of May AWMGS is changing the way we deliver services for patients with intellectual disability (IDUntitled design 29) and congenital malformation and/or dysmorphism (CM) syndromes.


ID testing was previously offered by AWMGS as an NGS panel analysis, limited to 101 genes. The new WGS and WES services for NHS patients are cutting-edge technologies resulting from a close collaboration between the Clinical Genetics team and Laboratory Genetics and are tailored to the needs of Welsh patients. WGS and WES will replace multiple genetic tests that were previously targeted at just one gene (single gene tests). The services will increase the diagnostic yield and shorten the patient diagnostic odyssey.

Please note, these services are only available via referral by Clinical Genetics, during the roll out phase.