Advancing Molecular Diagnostics: A Comprehensive Test Portfolio for Precision Medicine

Abstract :  Molecular diagnostics has emerged as a cornerstone of modern medicine, enabling precise disease detection, monitoring, and personalized treatment strategies. This article highlights the extensive test offerings available in a state-of-the-art molecular laboratory, emphasizing their role in enhancing patient care. By employing cutting-edge technologies like GeneXpert, PCR, and genotyping, these tests address a wide spectrum of diagnostic needs, from infectious diseases to genetic predispositions and personalized drug therapy.

Introduction : The rapid evolution of molecular diagnostics has revolutionized healthcare by providing high specificity and sensitivity in disease detection. These advancements enable clinicians to diagnose diseases earlier, tailor treatments to individual genetic profiles, and monitor therapeutic responses effectively. This article provides an overview of a molecular laboratory’s diverse test portfolio, showcasing its capabilities in delivering precision medicine.

Test Portfolio Overview

1. GeneXpert-Based Diagnostics: GeneXpert technology offers rapid and accurate detection of various pathogens. The tests include:

   • Ascitic Fluid for GeneXpert

   • Aspirated Fluid for GeneXpert

   • CSF for GeneXpert

   • Pericardial Fluid for GeneXpert

   • Pleural Fluid for GeneXpert

   • Synovial Fluid for GeneXpert

   • Tissue, Stool, Urine, Pus, and Sputum for GeneXpert

   • MTB DNA PCR (Sputum, Stool, Tissue/Urine)

2. Viral Detection and Quantification: PCR-based techniques for qualitative and quantitative detection of viruses, including:

   • BK Virus (Urine and Blood)

   • CMV-PCR (Qualitative and Quantitative for Urine and Blood)

   • Hepatitis B Virus (HBV DNA Quantitative)

   • Hepatitis C Virus (HCV RNA Quantitative)

   • HIV RNA

   • Human Papilloma Virus (HPV) DNA

3. Genotyping and Mutation Analysis: Tests focusing on genetic variations and mutations for personalized medicine:

   • Aspirin and Clopidogrel Genotyping (PGX)

   • Warfarin Sensitivity Genotyping

   • HCV and HBV Genotyping

   • JAK-2 Mutation (Exons 12 and 14)

4. Human Leukocyte Antigen (HLA) Typing: Critical for transplantation compatibility and immune profiling:

   • HLA-A-B-C-DR-DQ

   • HLA-5801

   • HLA-A-B-DR

   • HLA-B27 (Qualitative)

   • HLA-DQA1 and HLA-DRB1

   • T-Cell & B-Cell Crossmatch

5. COVID-19 Diagnostics: Leveraging rRT-PCR for pandemic control:

   • COVID-19 Test (rRT PCR)

   • Outbound Traveler COVID-19 Test (rRT-PCR)

Applications in Clinical Practice: The comprehensive test menu caters to diverse clinical scenarios, including:

• Infectious Diseases: Rapid pathogen detection ensures timely and targeted treatment.

• Transplantation Medicine: HLA typing and crossmatching enhance graft survival.

• Oncology and Hematology: Mutation analyses guide targeted therapies.

• Pharmacogenomics: Drug sensitivity genotyping optimizes therapeutic outcomes.

  
  

Conclusion: The molecular laboratory’s extensive test offerings underscore its commitment to advancing precision medicine. By integrating innovative technologies, these diagnostic solutions empower clinicians with actionable insights, ultimately improving patient outcomes. The future of healthcare lies in such sophisticated diagnostic capabilities, paving the way for a new era of personalized medicine.

Keywords: Molecular diagnostics, GeneXpert, PCR, Genotyping, Precision medicine, Infectious diseases, Personalized therapy