OVERVIEW
Molecular biology and genomics diagnostics uncover the genetic and molecular underpinnings of health and disease, enabling precise detection and characterization of conditions at their source. Techniques like PCR, next-generation sequencing, and gene expression profiling are now central to diagnosing inherited disorders, cancers, and infectious diseases.
As technologies advance, molecular and genomic tools are becoming faster, more affordable, and more comprehensive. They are not only improving diagnostic accuracy but also paving the way for personalized medicine, where treatments are tailored to each patient's unique genetic makeup.
PROCESS
Sample Collection & Nucleic Acid Analysis
Collect specimens, isolate nucleic acids, and assess integrity for genomic or transcriptomic testing.
Sample Testing and QC
Perform PCR or sequencing, apply internal controls, validate data quality and assay performance.
Result Interpretation of the Genetic Question or Risk Factor
Identify variants, classify pathogenicity, and interpret relevance to disease or genetic predisposition.