Guidelines for the diagnosis and management of many conditions often now require a molecular assay result, involving the detection of a specific nucleic acid sequence in a patient sample. The molecular result may be qualitative (eg for confirmation of the disease or condition) or quantitative (eg to measure viral loads in the monitoring of patients or to assess treatment success).
The detection of a specific nucleic acid sequence in a biological sample that contains huge amounts of DNA and/or RNA is extremely challenging. Therefore, nucleic acid amplification techniques such as the polymerase chain reaction (PCR) have been used to make multiple copies of the target nucleic acid sequence, allowing it to be detectable against background nucleic acids.
The special equipment and expertise required for molecular diagnostics previously meant that assays had to be performed in central, specialised molecular laboratories. Now, however, with the ad