Dynamic mutations pose unique challenges for the molecular diagnostics laboratory

Dynamic mutations pose unique challenges for the molecular diagnostics laboratory.

Routine clinical molecular testing of diseases associated with unstable or dynamic trinucleotide repeat syndromes poses unique technical, medical, and ethical challenges to the laboratory. Although the pathophysiology of these disorders is to date still largely undefined, the uniformity of their genetics has led to the development of highly informative diagnostic tests. In general, amplificatio...

Addressing challenges of molecular diagnostics through LIS.

Editorial: Current Challenges in Cardiovascular Molecular Diagnostics

In the last 10 years, the development of massive parallel sequencing technology, commonly referred to as next-generation-sequencing (NGS) technologies, carried the genetic field in a new era, opening unexplored avenues in the research of inherited cardiovascular disease (1). As any new technology, when based on solid experimental observations and on real innovation, primarily generates a lot of...

Precision medicine, technologies, and molecular diagnostics

Introduction: Genetics, cellular and molecular medicines are cutting-edge sciences and technologies that play an important role in improving human health and quality of life. In addition, medical and biological sciences have clearly shown that the onset of diseases differs from person to person due to their different genetic profiles and variations in molecular basis. Therefore, it is feasible ...

Laboratory diagnostics for HIV infection.

Laboratory diagnosis of human immunodeficiency virus (HIV) infection is fundamental for detecting and monitoring infection. Many diagnostic tools are available that are based on both detection of HIV-specific antibodies and virus antigen, or nucleic acid. As technology evolves, HIV testing assays are being improved providing better sensitivity and specificity. In this short review, we summarize...