Advanced techniques for prenatal screening using NGS are expected to change the way pregnancies are managed
1. Pre natal testing for chromosomal disorders such as Down syndrome and other trisomies are a necessity
Molecular diagnostics segment involves the analysis of biological markers in the genome and proteome by applying molecular biology to medical testing. This growth has been accelerated due to reduction in technology costs and discovery of new biomarkers. Molecular diagnostics involves diagnosis or predictive testing using an individual’s unique genetic data. This data provides grounds for diagnosis, and sometimes helps determine the personalised therapy necessary.
Numerous diagnostic offerings often are a by-product of broader genomics research programmes, pioneered by these diagnostic companies. Genetic testing (the analysis of human DNA, RNA, chromosomes, proteins or certain metabolites in order to detect alterations related to a heritable disorder) plays a vital role in diagnostics. It offers distinct advantages because of its ability to facilitate early disease detection with simpler and cost effective treatment, stratification of patients into groups, allowing selection of optimal therapy, reduction of adverse drug reactions, and minimisation of time, cost and failure rate of clinical trials for new therapies.
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