What Is Molecular Testing?

Molecular testing uses advanced laboratory technology to investigate the nucleic acids, genes, and proteins that make up human, viral, and microbial genomes. This powerful tool is revolutionizing the practice of laboratory medicine by providing diagnostic insights into pathogenesis and facilitating detection, diagnosis, subclassification, prognosis, and monitoring response to therapy. Molecular tests are used in numerous clinical disciplines, including oncology, infectious diseases, and clinical chemistry, and they complement and sometimes supplant conventional tests in many of these fields. Discover more about this product on this page.

 

Specimens for molecular testing are usually small samples of cells or liquids, such as blood, saliva, urine, feces, sputum, or aspirate smears from the mouth or nose. Molecular assays require the sample to contain DNA or RNA, which is then extracted, amplified, and detected using molecular technologies. The results are then interpreted by healthcare providers and may influence patient care and treatment.

 

Most commonly, molecular tests screen for specific hereditary mutations, such as a BRCA1 or BRCA2 gene mutation that increases the risk of developing breast and ovarian cancer. These tests help guide appropriate surgical intervention for these patients. In some cases, these tests can also be used to evaluate for acquired gene mutations that increase the risk of a specific disease, such as chronic myeloid leukemia.

 

In addition, some molecular tests can screen for a specific infectious organism such as severe acute respiratory syndrome coronavirus (SARS-CoV-2), influenza, herpes simplex virus type 1 or 2, hepatitis C virus, and tuberculosis. These tests are usually conducted with samples from the nose or mouth using nasopharyngeal swabs, anterior nasal swabs, and saliva collection cups. Molecular assays can also detect SARS-CoV-2 in blood or plasma. Click here for more info: https://www.jantdx.com.

 

Many Molecular Tests Have Uninformative, Inconclusive, or Ambiguous Test Results

Occasionally, genetic testing may identify common, natural variations in DNA, known as polymorphisms, that do not cause disease. These nondisease-causing variants are called variants of uncertain significance, or VUS, and they can be reported with other genetic test results.

 

When a molecular test result is uninformative, inconclusive, or ambiguous, it means that the laboratory did not detect a mutation that affects health or development in the gene, chromosome, or protein under consideration. This result can occur if the test is not sensitive enough to find all disease-causing mutations or if the variant found is not associated with disease in scientific research. This result can also occur if the test is performed on a small sample size or if the variant does not impact clinical management. In these cases, further testing or retests at a later date are recommended. Check out this post for more details related to this article: https://en.wikipedia.org/wiki/Genetic_testing.