Molecular Genetics

The two main branches of genetic pathology are:

Biochemical Genetics which includes,

• Population-based screening for inborn errors of metabolism by enzyme, protein and metabolite assays; and, diagnostic screening for inborn errors of metabolism in symptomatic patients by analysis of metabolites such as organic acids and amino acids;
• Diagnostic assays for specific disorders by analysis of specific analytes in body fluids, enzymatic studies, or DNA studies of specific genes;
• Predictive assays in unaffected relatives (or a fetus) to determine the risk of developing the disorder known to be present in the family;
• Pedigree analysis and diagnostic assessment of segregation in kindreds of disease-causing mutations or genomic regions
• Monitoring the biochemical status of patients for long-term care or to guide acute care in metabolic crises.

Medical Genomics which includes,

• Diagnostic detection and interpretation of genomic/ epigenomic variants in symptomatic patients (children, adults, fetuses);
• Pedigree analysis and diagnostic assessment of segregation in kindreds of disease-causing mutations or genomic regions;
• Diagnostic detection and interpretation of mosaic genomic variants, e.g. in cancer, pregnancy, and inherited diseases (e.g. tumour material; constitutional mosaicism; fetal DNA in maternal blood, circulating tumour DNA etc.) and quantitative assessment of mosaic genomic variants;
• Predictive/presymptomatic assays in unaffected relatives (or a fetus) to determine the risk of inheritance of a familial disorder;
• Population-based screening for genomic abnormalities (antenatal and newborn screening programs);
• Application of probability, statistics, bioinformatics databases, and other aspects of computer science relevant to the practice of genetic pathology