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Cytogenetic analysis, or karyotyping, involves the microscopic study of chromosome number and structure. Chromosome changes may represent evidence of a clonal process contributing to an accurate diagnosis, and in some cases provide information of prognostic or therapeutic relevance that is critical in patient-management.

Fluorescent in situ hybridisation (FISH) involves molecular labelling of small chromosome regions or individual genes allowing visualisation of sub-microscopic changes. FISH is frequently used to complement karyotyping in both diagnostic and post-treatment scenarios.

SNP array testing provides a global summary of genomic imbalances (copy number aberrations, CNAs) which can provide further evidence of a neoplastic process and can be a useful adjunct, or in some cases an alternative, to cytogenetics and FISH. In paediatric ALL in particular SNP array analysis is available for all patients at diagnosis in addition to cytogenetics and FISH.

In the NW GLH region, cytogenetics for haemato-oncology is undertaken at the Liverpool Women’s Hospital site and The Christie Hospital as part of the SIHMDS services for Cheshire and Merseyside and Greater Manchester, respectively. Each site works closely with the molecular genetics section of the SIHMDS to provide a comprehensive genomics service to meet the needs of each individual patient.

Please refer to the National Genomic Test Directory for current eligibility criteria.

For sample requirements please follow this link.