Understanding diseases at the genetic and molecular levels
In diagnostics, molecular testing plays a key role in identifying and understanding diseases at the genetic and molecular level. These tests can help with early detection, accurate diagnosis, and sometimes predict the course of a disease. MLO’s newest e-handbook provides important information to laboratorians on genetic disease testing, next-generation sequencing, polymerase chain reaction (PCR) testing, and targeted respiratory testing.
Some articles featured in the e-book, “Understanding diseases at the genetic and molecular levels,” include the following:
Genetic disease testing
Genetic diseases or disorders are caused by abnormalities or mutations in the genetic makeup. Genetic testing involves analysis of DNA, chromosomes, or proteins from an individual’s blood, skin, hair, or other tissue specimens for a change, or mutation, which is associated with a genetic condition. When a mutation occurs, it may affect all or part of a gene and can result in an abnormal function leading to disease.
Next-generation sequencing in laboratory medicine
Advancements in sequencing techniques and the emergence of next-generation sequencing (NGS) technology have transformed laboratory medicine and clinical diagnosis. DNA sequencing results help healthcare professionals in disease diagnosis, prognosis, therapeutic decision, and follow up of patients. Though NGS is evolving at a rapid pace, it is still primarily used for research purposes or in CLIA-certified laboratories as laboratory developed tests.
The changing respiratory testing landscape: Why the value of flexibility is key
The confluence of endemic COVID-19, diagnostic stewardship programs, and rising healthcare costs has led to more complexity than ever in the world of respiratory testing. Laboratories must decide when to test which patients for which pathogens and then be prepared to justify the costs of those decisions — all on a patient-by-patient basis. Many labs have adopted targeted testing for differential diagnosis of common respiratory pathogens, while others have adopted flexible testing approaches based on syndromic panels.
Sponsored by: Diasorin, ELITech Group MDx, Qiagen, QuidelOrtho, ZeptoMetrix