European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

Rack, K. A.; van den Berg-de-Ruiter, Eva; Haferlach, Claudia; Beverloo, H. Berna; Costa, Delfina; Espinet Solà, Blanca; Foot, N.; Jeffries, S.; Martin, K.; O’Connor, S.; Schoumans, Jacqueline; Talley, P.; Telford, N.; Stioui, S.; Zemanova, Zuzana; Hastings, Rosalind J.

doi:http://dx.doi.org/10.1038/s41375-019-0378-z

European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

Citation

Rack KA, van den Berg E, Haferlach C, Beverloo HB, Costa D, Espinet B. et al. European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms. Leukemia.2019 Aug;33(8):1851-1867. DOI: 10.1038/s41375-019-0378-z

Abstract

Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management of patients with haematological neoplasms. The widespread implementation of these techniques in genetic diagnostics has highlighted the need for guidance on the essential criteria to follow when providing cytogenomic testing, regardless of choice of methodology. These recommendations provide an updated, practical and easily available document that will assist laboratories in the choice of testing and methodology enabling them to operate within acceptable standards and maintain a quality service.