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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 & SNP), single gene variant analysis and next generation sequencing (NGS).

Full details of the service we offer can be found in our user handbook.

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 or GLH referral forms can be used. 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  cytogenetics@uhl-tr.nhs.uk

The Cytogenetic Laboratory Service is part of the East 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 East GLH duty scientist can be contacted at cuh.geneticslaboratories@nhs.net  

Why is genetic testing undertaken in the laboratory?

Chromosome abnormalities usually involve large amounts of DNA that can be rearranged, deleted or duplicated. Chromosome analysis may be carried out to investigate fertility issues, confirm some common chromosomal syndromes such as Down syndrome and to look for acquired chromosome changes associated with leukaemia. 

Microarray investigation allows the identification of very small losses and gains of genetic material that are too small to be seen on chromosome analysis. Using a patient’s DNA rather than their chromosomes very small loss and gain can be identified. In addition, where a particular type of microarray is used (a SNP array) uniparental disomy may be identified. Microarray investigation is used in prenatal diagnosis and in the investigation of dysmorphism, congenital malformations and intellectual disability.

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

Service feedback 

The laboratory welcomes and encourages feedback and comments from our service users regarding any aspect of our service. All sections within the laboratory can be contacted on 0116 258 5637 or extension 15637 or email; cytogenetics@uhl-tr.nhs.uk

 Lara Cresswell FRCPath, Head of Service 

Cytogenetics Service contact number: 0116 258 5637

Other links:

Clinical Genetics service