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

Rare Disease

We provide outpatient care for children and adults affected by a diverse range of genetic conditions, many of which are rare. We also provide genetic support for a wide number of specialist clinical teams across Great Ormond Street Hospital and the North Thames region. 

Clinicians provide advice on genetic testing and interpretation of genomic data. Conditions seen include:

• Diagnostic opinion for children with undiagnosed malformation syndromes and conditions associated with intellectual disabilit
• Diagnostic testing of rare diseases and syndromes including rapid genomic testing in critically ill children
• 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)

Cancer Genetics Service

The cancer genetics team provide a specialist service for children and adults affected by or at risk of inherited forms of cancer. This includes risk assessment and genetic testing for cancer predisposition when clinically indicated.

• 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 retinoblastoma

Testing for many genetic conditions can be arranged by the local care team without the need for a clinical genetics appointment. Genetic test request forms are available here (link). From April 2020, genetic testing will be centrally funded and eligibility for genetic testing will be guided by the genomic test directory (link). Patient consent should be obtained before requesting a genetic test.

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) We do accept referrals for some recessive disorders

Hyperlipidaemia - Referrals for hyperlipidaemia should be directed to your local lipid clinic. A list of UK lipid clinics can be found on https://www.heartuk.org.uk/lipid-clinics/find-your-nearest-lipid-clinic