Practical recommendations to ensure quality and safety of cytogenetic research

Abstract

The Working group of Russian Society of Medical Geneticists prepared these Recommendations based on General Guidelines and Quality Assurance for Cytogenetics: a common European framework for quality assessment for constitutional,acquired and molecular cytogenetic investigations (European Cytogeneticists Association (E.C.A.) Permanent Working Group for Cytogenetics and Society). This document is devoted to prenatal and postnatal (molecular) cytogenetic diagnosis of the constitutional chromosomal abnormalities, is aimed to define quality framework and to improve the activity of cytogenetic laboratories in Russian Federation. The Recommendations include aspects of quality control and safety for most of the methods currently employed by cytogenetic laboratories.