Interpretation of Molecular Genetic Test Results (Using CF as a model) (Archived)
Activity
Large Group Session
Large Group Session
Understand the principle types of gene mutations. Understand the nomenclature used to describe gene mutations. Understand the importance of test sensitivity for interpreting
results. Understand the problem of unclassified variants/variants of unknown clinical significance.
Curriculum Block
Medical Foundation 2 / Part 2
- Indicates most relevant
Objectives
Activity Objectives
- Understand the principle types of gene mutations.
- Understand the nomenclature used to describe gene mutations.
- Understand the importance of test sensitivity for interpreting results.
- Understand the problem of variants of unknown clinical significance.
Tags
Archived
Archived
Basic Sciences
Genetics
Cohort Year
2010
Curriculum Block
Medical Foundation 2
Part 2
Curriculum Week
Part 2
Discipline
Genetics
MCC Presentations
Genetic Concerns
McMaster Program Competencies
1.3 Interpret laboratory data, imaging studies, and other tests required for the area of practice
2.2 Apply biomedical scientific principles fundamental to health care for patients and populations.
2.3 Apply principles of clinical sciences to diagnostic and therapeutic decision-making, clinical problem-solving, and other aspects of evidence-based healthcare
MeSH
Base Pair Mismatch [G05.365.590.060]
Cystic Fibrosis [C16.320.190]
DNA Mutational Analysis [E05.393.760.700.300]
Frameshift Mutation [G05.365.590.265]
Genetic Testing [E01.370.225.562]
Genotype [G05.380]
Molecular Diagnostic Techniques [E05.393.520]
Molecular Sequence Data [L01.453.245.667]
Mutation, Missense [G05.365.590.650]
Phenotype [G05.695]
