Molecular Genetics

The Regional Molecular Genetics Laboratory currently has an establishment of 24 staff including 12 clinical scientists across all grades, 10 medical technical officers, and 2 administrators. The staff work closely with other scientists in the pathology directorate, research staff in the Institute of Child Health and Clinical colleagues. The laboratory along with Clinical Genetics and Cytogenetics, constitutes a strategic Genetics Unit within the organisation and also forms the North East Thames Regional Genetics Service. The Molecular Lab has full accreditation (CPA including ISO 15189) and is a key member of both the South East of England Clinical Genetic Network (SeeGen) serving a population of 14 million and the UK Genetic Testing Network (UKGTN).

An in-house diagnostic service is provided for a number of single gene disorders including fragile X syndrome, cystic fibrosis, connexin 26 related deafness and Angelman / Prader-Willi syndromes. The laboratory also provides both a national and international service for craniofacial, metabolic, immune deficiency and cardiovascular disorders. A DNA banking service is also provided whereby samples can be forwarded to other centres for approved requests providing funding is available. A complete list of in-house services is detailed on information sheets available on this web site (see 'Information for Health Professionals' section).

Download Service Pack (PDF, 460 KB) Version 4.3 (October 2009)

Download Annual Report 2008/2009 (PDF, 898 KB)

Download UKGTN NHS Directory of Genetics Services 2008-9 (PDF, 269 KB) (PDF, 269 KB)