Molecular Pathology

The revolutionary advances made in molecular biology during the past quarter century are making a major impact on laboratory diagnosis, as evident from its rapid acceptance and adoption in laboratories around the world. Generally, emphasis is now given for the acquisition of latest DNA technology to provide timely and high quality services to patients. Moreover, molecular biology offers novel strategies for gene therapy protocols, which will be routinely used in future to correct genetic defects and for cancer therapy.

Clinical laboratories of Aga Khan University Hospital have established a Molecular Pathology section in 1995 that functions as a laboratory that provides testing and expertise for interpretation of molecular diagnostics besides support for investigational research. The scope of our molecular pathology testing includes infectious diseases, oncology, molecular genetics and histocompatibility analysis. A variety of both qualitative and quantitative virology tests are offered that are based on viral nucleic acid detection using polymerase chain reaction and oligonucleotide probe hybridization. Hepatitis viruses (B, C and G types), Herpes Simplex Virus, Cytomegalovirus, Parvovirus B19, Epstein Barr virus, Cremeon Congo hemorrhagic fever virus represent the major viral types analyzed in Molecular Pathology Laboratory. For the diagnosis of hepatitis, this facility offers qualitative RNA detection, quantification of viral load and determination of Hepatitis C virus serotypes. These tests help clinicians for the correct diagnosis of Hepatitis C and monitoring of its treatment. Very soon RNA based genotyping of Hepatitis C will be added to this list.

DNA technology has provided powerful tools for genetic diagnosis, especially of single gene disorders such as thalassemia, cystic fibrosis, congenital adrenal hyperplasia, etc. Now it is possible to diagnose and correct genetic defects even in a developing fetus. Presently, Molecular Pathology Laboratory offers prenatal diagnosis for ß-thalassemia and so far more than 150 tests have been successfully performed. In addition, ?F508 mutation screening is also available for prenatal diagnosis. In not distant future, Fragile X and Duchenne muscular dystrophy tests will be provided for patient care. Human leukocyte Antigen (HLA) matching is an important criterion for organ transplant. 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. The vision of Molecular Pathology Laboratory is to make available latest and high quality DNA diagnostics to improve health.