Conditions treated by the Clinical Genetics department

The Clinical Genetics Department at Great Ormond Street Hospital sees adult and paediatric patients for a range of conditions including:
  • Childhood deafness
  • Developmental delay/learning disability
  • Diagnostic opinion for children with undiagnosed malformation syndromes and conditions associated with intellectual disability
  • Diagnostic testing of rare diseases and syndromes
  • Genetic counselling for families with known genetic and chromosomal conditions - this includes risks in future pregnancies and the need for testing of other family members
  • Genetic counselling prior to prenatal testing (invasive, non-invasive and PIGD)
  • Craniosynostosis
  • Huntington's Disease
  • Skeletal Dysplasias
  • Cleft lip and palate
  • Retinoblastoma
  • Personal and/or family history of breast cancer/ovarian cancer
  • Personal and/or family history of bowel cancer
  • Personal and/or family history of paediatric cancers or unusual cancers
  • Personal and/or family history of endocrine tumours
  • Personal and/or family history of kidney tumours
  • Personal and/or family history of any known or susptected genetic disorder

Conditions not seen in Clinical Genetics

Alpha-1 Antitrypsin deficiency (85 KB) 

Hereditary Haemochromatosis (78 KB) 

Certain types of Autism (262.49 KB)

Carrier testing in recessive conditions (124.7 KB)