The Manchester Centre for Genomic Medicine Clinical Genetics Service is a medical discipline specialising in the diagnosis and management of conditions with a known or probable genetic basis. Although individual genetic disorders are usually rare, collectively they are common, with 1 in 17 people affected by a rare, usually genetic, disorder. Genetic disorders occur across the whole lifespan and may affect multiple family members and generations. Families often require both specialist diagnosis and health management.
We offer urgent and routine consultations, as well as longer term follow-up when indicated. Consultant clinical geneticists, consultants in metabolic medicine and genetic counsellors work with a variety of medical specialties to provide specialist, family-centred services.
Our service offers diagnostic assessment, current and accurate medical information, risk estimation for pregnancies and the extended family, genetic counselling, and management and support to individual patients of any age. Because diagnosis and testing will often have an impact on the wider family this family based approach may assign risks to other family members who can be given an opportunity for assessment. For some disorders, this can include presymptomatic diagnosis.
Our clinics are held in Manchester and throughout the North West, please find out more on our clinical genetic service page.
Willink Biochemical Genetics Unit
Inborn errors of metabolism are genetic conditions involving fundamental biochemical processes. These diseases can affect any bodily system, are life long and the majority lead to significant morbidity and mortality. Our Willink Biochemical Genetics Unit provides a regional metabolic service. The catchment area covers the North West (including Merseyside) Cumbria and Yorkshire (except for South Yorkshire). We currently have over 1800 patients under regular review. In-patient services are based at the Royal Manchester Children’s Hospital and, for adults, Salford Royal Hospital.