ABPath Molecular Genetic Pathology study plan
ABPath Molecular Genetic Pathology · Give each week a clear focus.
8 weeks · About 6 hours per week
Normal structure/function, molecular techniques/methods, human genetic principles including DNA/RNA structure, transcription/translation, types of mutation and their detection, mutation nomenclature, gene structure and function, population and risk calculation
Explain DNA/RNA structure, gene structure, transcription and translation from first principles without notes
Classify mutation types (missense, nonsense, frameshift, splice-site, repeat expansion, CNV) and state the detection method best suited to each
Apply HGVS nomenclature rules to write and correct variant descriptions for coding, noncoding, and genomic coordinates
Calculate recurrence risks for autosomal dominant, autosomal recessive, X-linked, and mitochondrial pedigrees
Your checkpoint
A one-page variant-nomenclature cheat sheet plus 20 solved pedigree/risk-calculation problems with worked answers
Normal structure/function, molecular techniques/methods, human genetic principles including DNA/RNA structure, transcription/translation, types of mutation and their detection, mutation nomenclature, gene structure and function, population and risk calculation & Quality improvement, quality control, quality assurance and ethical, legal, and regulatory issues relating to molecular genetic laboratory testing
Compare PCR, qPCR, Sanger, capillary electrophoresis, MLPA, microarray, and NGS on sensitivity, turnaround, and appropriate use
Describe quality control steps (controls, contamination monitoring, validation, proficiency testing) for each major assay class
Summarize CAP/CLIA, HIPAA, GINA, and informed-consent requirements that govern molecular test ordering and reporting
Your checkpoint
A comparison table of 8 molecular methods against QC requirements and regulatory constraints, with a 10-item self-quiz
Inherited disorders of single and multiple genes and genes of mitochondrial origin
Map inheritance patterns and hallmark variants for major single-gene disorders (CF, sickle cell, thalassemias, fragile X, Huntington, DMD, spinal muscular atrophy)
Distinguish mitochondrial inheritance features (heteroplasmy, threshold effect, maternal transmission) and the testing implications
Select appropriate test strategies (targeted, panel, exome, deletion/duplication) for representative clinical scenarios
Your checkpoint
A 15-case inherited-disease worksheet matching each vignette to inheritance pattern, candidate gene, and first-line test
Neoplastic diseases and other acquired disorders
Explain the molecular pathogenesis and diagnostic markers of major solid tumors (lung, colorectal, melanoma, breast, glioma)
Explain the molecular pathogenesis and diagnostic markers of hematologic neoplasms (leukemias, lymphomas, MPNs)
Interpret variant types (SNV, fusion, amplification, MSI, TMB, methylation) in the context of diagnosis, prognosis, and targeted therapy
Your checkpoint
A tumor-marker matrix (disease x gene/variant x assay x clinical significance) covering at least 20 entries
Infectious diseases
Compare nucleic acid amplification, sequencing, and hybridization methods for detecting bacterial, viral, fungal, and mycobacterial pathogens
Interpret quantitative viral load results and resistance mutation panels for common organisms (HIV, HCV, CMV, HBV, MTB)
Identify contamination, inhibition, and false-negative pitfalls specific to infectious-disease molecular testing
Your checkpoint
A 12-question infectious-disease case set with interpretations and a written explanation of three common false-result pitfalls
Identity testing, histocompatibility, immunologic diseases, and forensic testing
Describe STR and SNP genotyping for identity, kinship, chimerism, and forensic specimen interpretation
Explain HLA typing methods (SSO, SSP, SBT, NGS) and their role in transplant matching and disease association
Outline quality and chain-of-custody requirements for forensic and identity specimens
Your checkpoint
A summary sheet of identity/HLA/forensic methods with a 10-item quiz and answer key
Pharmacogenomic testing
Interpret pharmacogenomic variant results for CYP2D6, CYP2C19, CYP2C9, VKORC1, TPMT/NUDT15, DPYD, and HLA-B*57:01
Translate genotype into phenotype (metabolizer status) and connect it to drug selection and dosing
Identify limitations of pharmacogenomic testing including copy-number interpretation and rare-variant uncertainty
Your checkpoint
A pharmacogenomic drug-gene reference table with five worked genotype-to-recommendation cases
Informatics & Quality improvement, quality control, quality assurance and ethical, legal, and regulatory issues relating to molecular genetic laboratory testing
Explain bioinformatic pipeline stages (alignment, variant calling, annotation, filtering) and common sources of error
Interpret variant classification using ACMG/AMP criteria and recognize reporting-quality issues
Apply informatics and quality principles to LIS/EMR integration, data security, and result reporting
Complete a timed mixed-domain practice assessment and review every missed item
Your checkpoint
A timed 60-question mixed-domain practice exam with error log and remediation notes for each missed item
Milestones
Week 2: Score at least 80% on a self-made 25-question quiz covering Domains 1 and 2, with no unresolved nomenclature errors
Week 4: Complete the tumor-marker matrix and correctly interpret at least 8 of 10 mixed inherited/neoplastic vignettes
Week 6: Demonstrate working knowledge of Domains 5 and 6 by scoring at least 75% on a 30-question combined quiz
Week 8: Score at least 70% on the timed 60-question mixed-domain practice exam and document a remediation plan for every missed item