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Genetics

Testing blood samples in one of GOSH's in-house labs
Testing blood samples in one of GOSH's in-house labs

Overview

The Clinical Genetics department at Great Ormond Street Hospital provides genetic counselling for children and adults who have, or who may be at risk of, inheriting a genetic condition. 

The department runs specialist clinics for multiple malformation and dysmorphic syndromes and for conditions where genetic testing can be used for carrier detection or prenatal diagnosis. 

In 2010 GOSgene was created. A unique genetic facility, GOSgene uses cutting-edge methods to pinpoint the faulty gene responsible for a child’s condition. More than 52 children have been given an accurate diagnosis, and in over 50% of cases, the discovery of the faulty gene is a new one that has not previously been reported.  

Conditions we treat

  • Cystic Fibrosis 
  • Neurofibromatosis 
  • Duchenne muscular dystrophy 
  • Fetal abnormalities 
  • Huntington disease 
  • Myotonic dystrophy 
  • Marfan syndrome 
  • congenital abnormalities 
  • childhood deafness 
  • developmental delay/learning disability 
  • chromosome abnormalities 
  • 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 
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