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


The Clinical Genetics department at Great Ormond Street Hospital provides a diagnostic service for rare known or suspected genetic disorders and genetic counselling for families who have or may be at risk of inheriting a genetic condition.

The department runs specialist clinics for conditions where genetic testing can be used for carrier detection or prenatal diagnosis. We counsel families about the recurrence risk of genetic disorders and advise about risk reduction and reproductive options.

Conditions we treat

The group of disorders we see include

  • Developmental delay and/or learning difficulties
  • Congenital abnormalities
  • Paediatric rare disease (eg Epilepsy syndromes, neurogenetic disorders, hereditary hearing loss, syndromes)
  • Adult rare disease (eg Connective tissue disorders, neurogenetic disorders)
  • Fetal anomalies and prenatal counselling (including pre-conceptual genetic counselling)
  • Adult hereditary cancer or suspected inherited predisposition to cancer
  • Paediatric cancer

Genetics laboratories

  • The Genetics Laboratories at GOSH provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing.
  • Comprehensive constitutional chromosome analysis is offered for a range of referrals (postnatal and prenatal) using high-density oligonucleotide microarrays, G-banding karyotyping and fluorescence in situ hybridization (FISH). Other DNA based cytogenetics tests employed by the laboratories include quantitative fluorescence polymerase chain reaction (QF-PCR).
  • Non-invasive prenatal diagnosis (NIPD) available for a  number of single-gene disorders.
  • Non-invasive prenatal sex determination is offered only for pregnancies at risk of sex-linked disorders
  • Prenatal diagnosis (for severe disorders, where the genetic cause is known).
  • Certain genetic tests are not available to private patients via NHS laboratories. These will be sent to accredited partner laboratories in the private sector.

Refer your child for treatment

Use the form below to refer your child for treatment. A member of our team will be in touch within 2 working days.

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