Clinical Genetic Services
Genetic disorders occur across the whole lifespan and frequently affect multiple family members and more than one generation. Affected families often require both specialist diagnosis and long-term management. Treatment or entry into trials is applicable to some conditions.View examples of Genetic Disorders
- Rare single gene disorders, e.g. muscular dystrophies, dysmorphic syndromes, skeletal and connective tissue disorders, neurological conditions
- Chromosomal abnormalities, including deletions/duplication or balanced /complex rearrangements
- Familial cancer and cardiac syndromes
- Genetic eye and hearing disorders including congenital and adult onset loss of vision or hearing
- Congenital abnormalities, including syndromic, non-genetic and teratogenic anomalies, whether detected antenatally or postnatally
- Learning disability with or without autism/congenital abnormalities
- Metabolic disorders usually detected through new-born screening or though symptoms appearing in infancy.
We offer both urgent and routine consultations, as well as long term follow-up when indicated. Consultants in clinical genetics and biochemical genetics and genetic counsellors work together to provide specialist, family-centred services.
Our service offers diagnosis and risk estimation for individuals, pregnancies and the extended family. We also offer management, support and appropriate information for genetic conditions affecting patients of all ages. In some families, we are able to offer pre-symptomatic diagnosis.
Genetics and multidisciplinary clinics are held on the 6th floor of Saint Mary’s Hospital or in other hospitals on the Central Manchester University Hospitals NHS Foundation Trust main site. Out-reach clinics are held across the North West, usually in district hospitals. We have in-patient facilities in the Royal Manchester Children's Hospital for patients with metabolic disorders and are happy to give telephone advice about referrals to this service.