European Pathology and Infectious Disease Conference

Biography

Biography: Massoud Houshmand

Abstract

The identify cation and characterization of the genetic basis of disease is often fundamental to diagnosis. Detection of cause of the disease in a blood or other tissues sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. Over the years, a variety of cytogenetic (Karyotyping) Molecular Cytogenetic (FISH-CGHarray-Cish) and molecular biology techniques (PCR-RFLP-ARMS-Dot Blot-Sequencing-MLPA-Western, Norden and southern blot-Real Time PCR, PGD) have been utilized in clinical diagnostic laboratories in the analysis of patient samples. The recent development of next-generation sequencing (NGS) techniques has revolutionized the field of clinical molecular diagnostics. Here, we review the development of molecular diagnostic approaches and some of the most commonly used assays prior to different kind of techniques in this area and mention advantage and disadvantage of each technique. PCR-based testing methodologies still currently predominate most clinical molecular diagnostic laboratories. The choice of detection method used in the analysis of gene mutations depends on a variety of factors and can range from laboratory to laboratory. Sample volume, the spectrum of mutations in a given gene of interest, and equipment investment required can all play a role in what type of assays a molecular diagnostic laboratory chooses to perform.