European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms.

Rack KA1, van den Berg E2, Haferlach C3, Beverloo HB4, Costa D5, Espinet B6, Foot N7, Jeffries S8, Martin K9, O'Connor S10, Schoumans J11, Talley P10, Telford N12, Stioui S13, Zemanova Z14, Hastings RJ15.

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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.