What Is Molecular Diagnostics?

Molecular Diagnostics is a highly advanced laboratory specialty that uses DNA, RNA, and other genetic materials to diagnose diseases. It provides highly accurate, early, and specific detection of infections, cancers, and genetic disorders.

Role of Molecular Diagnostic Experts

Specialists in molecular diagnostics use advanced techniques to detect genetic changes, pathogens, and disease markers.

Infection Detection: Identifying viruses and bacteria using PCR and molecular assays.

Cancer Diagnostics: Detecting mutations and biomarkers linked to tumors.

Genetic Screening: Identifying hereditary disorders and risk factors.

Precision Medicine: Helping doctors choose targeted treatments based on molecular profiles.

When Are Molecular Tests Needed?

Molecular tests are recommended for detecting infections, monitoring cancer, identifying genetic diseases, prenatal screening, and personalized treatment planning.

Common Molecular Diagnostic Tests

📌 PCR-Based Tests

RT-PCR for Viral Infections: Used for COVID-19, influenza, H1N1, hepatitis, and other viral diseases.

Tuberculosis PCR (GeneXpert/CBNAAT): Rapid detection of TB and rifampicin resistance.

HPV DNA Test: Detects high-risk human papillomavirus strains causing cervical cancer.

Dengue PCR: Early detection of dengue virus.

📌 Genetic & Hereditary Tests

BRCA1 & BRCA2 Gene Testing: Identifies risk for breast and ovarian cancer.

Thalassemia Mutation Analysis: Detects genetic variants causing thalassemia.

Newborn Screening: Identifies inherited metabolic or genetic conditions.

📌 Oncology / Cancer Marker Tests

EGFR, KRAS, NRAS Mutation Analysis: Helps guide targeted cancer therapies.

BCR-ABL (PCR): Used for diagnosing and monitoring chronic myeloid leukemia (CML).

Minimal Residual Disease Testing (MRD): Detects small numbers of cancer cells after treatment.

📌 Prenatal & Reproductive Tests

NIPT (Non-Invasive Prenatal Test): Screens fetal chromosomal abnormalities like Down syndrome.

Y-Chromosome Test: Confirms fetal gender when medically required.

Genetic Carrier Screening: Checks for inherited conditions before pregnancy.

📌 Infectious Disease Panels

HIV Viral Load (PCR): Measures the amount of HIV RNA in blood.

HCV RNA Quantitative PCR: Detects and measures hepatitis C virus.

HBV DNA Quantitative PCR: Measures viral levels in hepatitis B infections.

📌 Other Advanced Molecular Tests

HLA Typing: Essential for organ and bone marrow transplantation.

Microarray Testing: Detects chromosomal abnormalities.

Next-Generation Sequencing (NGS): A comprehensive method to analyze multiple genes simultaneously.