Basic process of molecular diagnosis

The core technologies of most molecular diagnostic laboratories are focused on detecting specific, relatively short fragments of DNA or RNA. The technology can diagnose infectious diseases, identify specific genetic variants that affect drug metabolism, or detect genes associated with diseases, such as those associated with cancer.

At the heart of these assays is the use of real-time quantitative polymerase chain reaction (PCR), transcription-regulated amplification (TMA), targeted amplification, and signal amplification, among other similar technologies. Sanger sequencing and analysis of DNA fragments or gels using capillary electrophoresis are key techniques in molecular diagnostic laboratories, but they often also include an amplification step in the detection process.

In order to successfully apply assays that use DNA and RNA to diagnose disease, molecular diagnostic laboratories must use well-defined workflows to achieve consistent, valid results, and there are existing tools that help diagnostic laboratories achieve each task. Special tools for process streamlining.

The basic flow of detection is as follows:

1. Sample collection and preparation. Genes for testing are extracted from the sample.

2. Amplification: Once the genetic material is isolated, it must be immediately amplified to detectable quantities in order to make a diagnostic order.

3. Detection: After getting enough target substance, the light sensor will read the signal corresponding to the target substance to be detected. Signals must be single or diverse so that multiple target species can be detected in a single reaction (eg, multi-channel detection).

4. Data analysis: analyze the signal read in the detection step. The results of the analysis are translated into information that laboratory personnel can interpret at any time, ultimately providing the clinician with a diagnosis.