Quality in cytogenetics

Abstract

Cytogenetics includes whole-genome analysis by means of chromosomal karyotyping and high resolution molecular techniques such as FISH, microarray, MLPA, QF-PCR, RT-PCR and RQ-PCR. The effective laboratory quality control system will determine the circumstances when it is appropriate to apply those different methodologies. • A systematic approach to the validation of the techniques will ensure that reliable, repeatable tests are undertaken. • Knowledge of the limitations of any results in relation to the technique and tissue being examined will minimise failure and misdiagnosis. • Accurate analysis and interpretation are critical quality parameters requiring extensive knowledge of the aetiology of cytogenetic abnormalities and risk factors. Training of staff in interpretation of the results and a comprehensive means of reporting normal and abnormal results underpins the service to the patient. • The cytogenetics laboratory providing a dependable and accurate diagnostic service will have in place a structured quality management system with reliable internal quality control and regular external audits such as EQA and accreditation.