Molecular Diagnostics

Head of Department: Dr. Chandanamali Punchihewa

Molecular Diagnostics consist of detecting specific sequences in DNA or RNA (nucleic acid molecules) that may be associated with a disease. The clinical information sourced from these tests can be used to accurately diagnose and effectively treat an ailment. Clinical applications of Molecular Diagnostics can be found in many areas of medicine including infectious diseases, oncology, pharmacogenomics, genetic disease screening, human leukocyte antigen typing, and coagulation.

 

What are the steps involved in a Molecular Diagnostics test?

The 3 basic steps involved in Molecular Diagnostics test are as follows:

  1. The extraction and purification of DNA or RNA (nucleic acid molecules).
  2. The amplification or making copies of the nucleic acid of interest (target) or attaching multiple copies of a dye to a single target copy.
  3. The detection of the amplified target using real time polymerase chain reaction (PCR).

 

Types of Molecular Diagnostics test performed at LHD?

The two main types of tests performed in Molecular Diagnostics are pathogen detection and genetic testing.

During pathogen detection pathogenic microorganisms, including some viruses, bacteria, parasites and fungi that cause infectious are identified using PCR, aiding efficient diagnosis and treatment. 

During genetic testing human DNA is analysed using PCR to gather clinical information such as the presence of genetic disorders, functioning of the relevant genes and gene segments, sex determination of embryos as well as detecting chromosomal and genetic disorders in the foetus, carriership of hereditary disorders or measuring the efficacy of drug therapy and cancer detection and treatment.

 

Why choose LHD for Molecular Diagnostics tests?

Our state of the art, CAP accredited Molecular Diagnostics laboratory is equipped with real-time thermal cyclers and other state of the art equipment required for molecular diagnosis.

Our highly qualified and well-trained laboratory professionals conduct most of the tests utilising the innovative real-time PCR technique which generates high quality, qualitative and quantitative test results, with a high level of accuracy and speed. This also ensures the ease of quantification, greater sensitivity, reproducibility and precision, rapid analysis, better control of quality in the process and a lower risk of contamination, which in turn leads to a highly reliable diagnosis for our valued patients.

 

Types of tests we conduct

 Infectious diseases

  • BKV (BK virus) - Detection / Quantitation
  • Burkholderia pseudomallei (Melioidosis)
  • Chlamydia Trachomatis
  • Clostridium Difficile
  • Cytomegalovirus (CMV) - Detection / Quantitation
  • Dengue virus
  • Enterovirus
  • Epstein-Barr Virus (EBV)
  • Hepatitis B Virus (HBV) - Detection / Quantitation
  • Hepatitis C Virus (HCV) - Detection / Quantitation
  • Herpes Simplex Virus (HSV)
  • Human immunodeficiency virus-1 (HIV 1) - Detection / Quantitation
  • Human papilloma virus (HPV) - Detection and Genotyping
  • Influenza A/H1N1
  • Japanese encephalitis virus
  • Mycobacterium tuberculosis (TB)
  • Neisseria gonorrhoeae
  • ParvoVirus B19
  • Pneumocystis carinii/jiroveci (PCP)
  • Stool PCR for Salmonella, Shigella & Campylobacter
  • Toxoplasma gondii
  • Varicella Zoster Virus (VZV)
  • Viral encephalitis panel
   

Oncology and Haematological Disorders

  • Acute lymphoblastic leukaemia (ALL) translocations
  • Acute myeloid leukaemia (AML) translocation
  • BRAF V600E mutation
  • EGFR mutations
  • Factor II (prothrombin) mutation
  • Factor V Leiden mutation
  • FLT3-ITD
  • JAK2 V617F mutation
  • KRAS mutations (codons 12, 13 & 61)
  • MTHFR mutation
  • NPM1 mutation
  • Philadelphia Chromosome (BCR/ABL) - Detection / Quantitation
  • PML-RARA - Detection/Quantitation

 

Organ transplantation

  • HLA-A,B,DR molecular typing (low resolution)