Molecular Pathology
Service
The revolutionary advances made in molecular biology during the past quarter century have.jpg)
made a major impact on clinical laboratory diagnosis. This is evident from rapid acceptance and adoption of molecular diagnostics in laboratories around the world. Increasing awareness of molecular basis disease and advancement in technology, the demand for nucleic based testing has been increased. , molecular biology offers novel strategies for gene therapy protocols, which have potential for use in future to correct genetic defects and treat cancer. Genetic profiling is destined to play a major role in the field of pharma genomic and precision medicine. Molecular Pathology section established in 1995 in Clinical Laboratories of the Aga Khan University Hospital. The Laboratory performs DNA and RNA based testing to provide diagnostic information to laboratory physicians and clinicians, in order to help guide optimal care for patients with cancer, viral infection, histocompatibility and genetic diseases. Apart from performing complex Molecular Testing, Novel molecular diagnostic tests have been developed, and support is also provided for investigational research.DNA technology has provided powerful tools for genetic diagnosis, especially of single gene disorders such as thalassemia, cystic fibrosis, and others. In addition, Alpha-thalassemia, Spinal Muscular Atrophy, Duchene Muscular Atrophy; analysis is also available for blood based and prenatal diagnosis. Human Leukocyte Antigen (HLA) matching is an important criterion for organ transplant. The Molecular Pathology Laboratory provides low to intermediate resolution nucleic acid-based typing facility for HLA class I and II loci. HLA-A, -B, -C, -DR, -DQ alleles are typed using PCR-SSP technology obtained from leading manufacturers. Mover Over HLA –B27 tests are also available for disease association. For post-transplant monitoring quantification of donor chimerism is also included in the repertoire. A variety of both qualitative and quantitative virology tests are offered, and they are based on viral nucleic acid detection using Real Time polymerase chain reaction. SARS CoV2, HIV, Hepatitis viruses (B, C and D types), Herpes Simplex virus 1&2, Cytomegalovirus, Dengue Virus, Epstein Barr virus and Crimean Congo hemorrhagic fever virus represent the major viral types analyzed in the Molecular Pathology Laboratory. New innovations in genomic technologies in conjunction with advancements in biomarker discoveries have transformed approach towards cancer management. Molecular Pathology offer BCR-ABL1 translocation Qualitative and Quantitative analysis, BCR-ABL kinase Domain Mutation, PML RARA, FLT3 ITD and D835 and NPM, EGFR mutation analysis. The vision of the Molecular Pathology Laboratory is to make available the latest and high-quality DNA diagnostics to improve health.
Teaching
Presently, there is no structured residency program in the Section; however, residents from Histopathology, Microbiology, Chemical Pathology and Hematology sections rotate in Molecular Pathology as a part of their comprehensive training program. Residents acquire special knowledge of molecular pathology on issues related to the application of DNA/RNA technology in wide variety of clinical circumstances. Molecular Technologies and Lab Methods, Microarray/NGS Platforms and Informatics, Identity Testing, Inherited Conditions, Pharmacogenomics, HLA Transplant Testing, Cytogenetics, Molecular Oncology, Molecular Hematopathology and Infectious Diseases. In addition, through the Elective Rotation Program, AKU students and visiting medical students are taught the latest molecular techniques and their applications in infectious diseases cancer and genetic disorders. The Section also participates in the Technologist Trainee Program of the clinical laboratory Trainees are provided knowledge and skills of several molecular diagnostic techniques, results interpretation and different aspects of quality assurance.
Research
The research activities of the Section include several areas of investigation. These activates are supported by both internal and external peer-reviewed grants received by the faculty. Major theme of research is the study of whole genome sequencing of regional SARS CoV2, Immunopathology of mycobacterial infections and the role of chemokine activation in the outcome of tuberculosis in pulmonary and extra-pulmonary infections, I Investigate molecular epidemiology of M. tuberculosis strains, to enhance our understanding of prevalence and transmission patterns of tuberculosis in Pakistan. and investigating chromosomal abnormality in patients diagnosed with Congenital Heart Disease (CHD) with Chromosomal Microarray technology. By understanding the genetic causes in our population will enable establishment of risk factors for CHD, and appropriate genetic counseling can be performed.
