MOLECULAR PATHOLOGY AND MEDICAL GENETICS

Molecular pathology and medical genetics is a branch of science that deals mainly with collection of cells, body fluids, tissues, and or body organs and are associated with genetic disorder. It is the responsibility of genetic pathologists to reveal the cause of pathogenic disease and the risk that are associated with genetic disease. They also provide genetic counseling to individuals and their family relatives about genetic disorder based on laboratory examination result interpretation and diagnostic test. Diagnostic molecular pathology began to arise during 1980’s. This development was result of nucleic acid hybridization probes invention. This field has covered wide range of genomic information and human genome retrieval. Molecular pathology and medical genetics are subpart of clinical genetics science.

Objective of molecular genetic pathology

Main purpose of diagnostic molecular genetic pathology is to

• Identification or detection of infectious genomes
• Diagnosis of inherited disease sign and symptoms
• Chromosomal studies and basic metabolic studies
• Managing metabolic disorder
• Evaluation of genetic changes
• Interpretation of biochemical tests
• Monitoring pathogenic infection of bacteria, virus and fungi
• Helps in gene therapy development
• Evaluate molecular genetic tests

Questions:

• What are general principles of molecular pathology and medical genetics?
• What are the specific applications of molecular pathology and medical genetics?
• What is diagnostic molecular pathology?
• Give short note on use of markers for diagnostic applications.
• How do you evaluate the efficacy of molecular tests?