TY  - JOUR
AU  - Basso, Daniela
AU  - Zambon, Carlo-Federico
AU  - Navaglia, Filippo
AU  - Padoan, Andrea
AU  - Moz, Stefania
AU  - Bozzato, Dania
AU  - Aita, Ada
AU  - Plebani, Mario
PY  - 2018
TI  - Developments in molecular diagnostics
JF  - Journal of Laboratory and Precision Medicine; Vol 3 (September 2018): Journal of Laboratory and Precision Medicine
Y2  - 2018
KW  - 
N2  - The present article provides an overview on the rapidly evolving scenario in clinical molecular diagnostics. The concept of clinical validity and utility underpins the use of molecular diagnostic tests in the clinical laboratory, and continuous sharing of expertise between clinical and laboratory partners will enhance appropriateness of molecular testing and interpretation, thus improving personalized medicine. Thanks to the technological advances made in molecular diagnostics, above all in next generation sequencing (NGS) and digital polymerase chain reaction (dPCR) platforms, clinical laboratories benefit from rapid translation of established and emerging molecular tests. The examples of their application which will be discussed encompass cystic fibrosis (CF) (qualitative molecular) and BCR/ABL1 (quantitative molecular) tests. A final consideration on total quality assurance in molecular testing is also made and the role of accreditation is underlined as one of the main factors in guaranteeing the overall quality of molecular test results.
UR  - https://jlpm.amegroups.org/article/view/4525