Molecular Biology
Molecular Biology is the study of biological activity at the molecular level, particularly focusing on the interactions between DNA, RNA, and proteins. In a diagnostic lab, molecular biology techniques are used to detect, identify, and quantify specific nucleic acid sequences (DNA or RNA) from pathogens, human genes, or cancer cells.
DNA
The genetic blueprint.
RNA
Carries genetic information from DNA to make proteins, and also has regulatory roles.
Specific Genes/Sequences
Targets particular regions of DNA or RNA.
Infectious Disease Diagnosis
Highly sensitive and specific detection of bacteria, viruses, fungi, and parasites (e.g., HIV viral load, Hepatitis C genotyping, COVID-19 PCR, HPV testing, Tuberculosis detection).
Oncology
Detecting specific gene mutations or translocations in cancer cells that can guide targeted therapies (e.g., EGFR mutations in lung cancer, BCR-ABL in CML).
Pharmacogenomics
Identifying genetic variations that affect an individual's response to drugs.
Genetics
Genetics is the study of heredity, genes, and variation in living organisms. It focuses on how traits are inherited from parents to offspring and how genetic information is organized and expressed.
Genes
Specific segments of DNA that carry instructions for building proteins
Chromosomes
Structures within cells that contain a person's genes.
Genetic Variants/Mutations
Changes in the DNA sequence.
Conditions Diagnosed/Monitored
Inherited Disease Diagnosis
Diagnosing genetic disorders (e.g., cystic fibrosis, Huntington's disease, muscular dystrophy, fragile X syndrome).
Carrier Screening
Identifying individuals who carry a gene for a recessive disorder but do not have the disease themselves, for family planning.
Prenatal Diagnosis
Testing a fetus for genetic conditions.
Preimplantation Genetic Testing (PGT)
DNA fingerprinting.
Cancer Susceptibility
Identifying inherited mutations that increase cancer risk (e.g., BRCA1/2 for breast and ovarian cancer).
Pharmacogenomics
(Overlap with molecular biology) Guiding drug selection and dosage based on an individual's genetic profile.
Interconnection in a Diagnostic Lab
Molecular biology provides the tools and techniques (like PCR, nucleic acid extraction) that are fundamental to genetic testing. Genetics uses these molecular tools to investigate inherited traits, mutations, and chromosomal abnormalities.
Personalized Medicine
Tailoring treatments based on an individual's unique genetic makeup or the specific molecular characteristics of their disease.
Precision Diagnosis
Providing highly accurate and specific diagnoses, often at an early stage.
Prognosis and Risk Assessment
Predicting disease progression or an individual's susceptibility to certain conditions.
Targeted Therapies
Identifying specific molecular targets for highly effective treatments, especially in cancer.