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Cytogenetics

The Cytogenetics Laboratory is a consultant clinical scientist led service and is located on the Royal Infirmary site in the Leicestershire Genetics Centre. We employ highly trained clinical scientists, genetic technologists and biomedical assistants to provide our specialised UKAS ISO15189 (Medical Laboratories) accredited service (Ref 8069). The laboratory participates in the relevant Genetics External Quality Assessment Schemes (GenQA) and UK NEQAS Leucocyte Immunophenotyping Scheme to cover the full repertoire of our services and ensure the highest standards. 

We offer an analysis and clinical interpretation service on a range of prenatal, postnatal, haematological and cancer samples using traditional karyotyping, FISH, microarray CGH and single gene mutation analysis

The Cytogenetic Laboratory Service is part of the East Midlands East of England Genomic Laboratory Hub (GLH) led by Cambridge University Hospital Foundation Trust. The GLH provides testing in line with the NHS England genomic test directories for rare disease and cancer.

The laboratory is co-located and works in conjunction with the Clinical Genetics Service.

Laboratory opening hours: 09:00 to 17:30 (Monday - Friday). The department does not operate an out-of-hours service.

Please note that cytogenetic tests cannot be requested using ICE. Referral forms are available from the laboratory. Patient information leaflets for microarray testing are also available.

For clinical advice, sample enquiries and results the cytogenetics laboratory can be contacted on 0116 258 5637, or email

Why undertake cytogenetic investigations?

Chromosome abnormalities usually involve large amounts of DNA that can be rearranged, deleted or duplicated. Chromosome analysis may be carried out for finding the cause of pregnancy loss and infertility and to look for acquired chromosome changes associated with leukaemia. 

Microarray investigation allows the identification of very small abnormalities that are too small to be seen on chromosomes. Using a patient's DNA, rather than chromosomes, very small deletion and duplication can be identified. Microarray is used in prenatal diagnosis and the investigation of dysmorphism, congenital malformations and/or developmental delay.

Molecular pathology testing is an important part of the diagnosis of patients with cancer as acquired genetic changes can be of diagnostic, prognostic and therapeutic significance. We currently undertake testing in lung cancer and myeloproliferative neoplasms.

 

Lara Cresswell FRCPath, Head of Service 

Cytogenetics Service contact number: 0116 258 5637
Email:
Cytogenetics@uhl-tr.nhs.uk

Other links:

Clinical Genetics service