ABMGG Molecular Genetic Pathology study plan
ABMGG Molecular Genetic Pathology · Give each week a clear focus.
8 weeks · About 8 hours per week
Molecular Biology Fundamentals and Nucleic Acid Chemistry & Molecular Techniques and Assay Design (amplification, hybridization, sequencing, microarrays)
Derive the consequences of nucleotide modifications (deamination, oxidation, alkylation) on base-pairing and downstream assay interpretation
Compare PCR, isothermal amplification, and ligation-based methods on specificity, contamination risk, and template requirements
Design primer and probe sets for a hypothetical SNV assay and justify melting temperature, GC content, and mismatch placement choices
Explain the mechanism and limits of Sanger sequencing, including how dye-terminator chemistry affects mixed-base detection
Your checkpoint
A written one-page assay design rationale for a hypothetical germline SNV assay, including primer/probe sequences, expected amplicon size, and stated failure modes
Molecular Techniques and Assay Design (amplification, hybridization, sequencing, microarrays) & Quality Assurance, Validation, and Laboratory Regulatory Standards
Compare next-generation sequencing platforms (short-read, long-read) on error modes, read length, and appropriate clinical applications
Interpret microarray and MLPA results for copy-number detection and identify their blind spots for balanced events and low-level mosaicism
Draft a validation protocol outline for a new assay, specifying accuracy, precision, analytical sensitivity, and reference range studies
Distinguish CAP/CLIA requirements for LDT validation from those for FDA-cleared assay verification
Your checkpoint
A validation protocol outline for one assay (choose NGS panel or PCR-based assay) listing each validation parameter with proposed acceptance criteria
Inherited Mendelian Disorders and Germline Variant Interpretation & Cytogenetics, Genomic Medicine, and Bioinformatics
Classify variants using ACMG/AMP criteria and assign evidence codes for at least 15 practice variants
Apply PVS1 decision logic to truncating variants with attention to exon position and predicted escape of nonsense-mediated decay
Identify when trio analysis, segregation data, or functional evidence upgrades or downgrades a classification
Explain how reference genome choice, liftover errors, and transcript selection affect variant reporting
Your checkpoint
A variant classification worksheet for 15 variants with evidence codes cited for each and final classifications
Inherited Mendelian Disorders and Germline Variant Interpretation & Cytogenetics, Genomic Medicine, and Bioinformatics
Interpret copy-number variants in the context of dosage sensitivity and known contiguous gene syndromes
Evaluate runs of homozygosity and identity-by-descent segments for consanguinity and UPD clues
Explain secondary and incidental findings policies and how they alter reporting workflow
Describe the role of variant curation databases and how to resolve discordant entries
Your checkpoint
A case-based write-up of two complex germline cases (one CNV, one CNV with ROH) with proposed interpretations and reporting language
Cancer Genetics and Somatic Molecular Oncology & Hematologic Malignancies and Molecular Hematopathology
Distinguish driver from passenger alterations and explain how tumor purity and variant allele fraction affect interpretation
Interpret EGFR, KRAS, BRAF, and homologous recombination repair pathway results in terms of therapy implications
Explain the molecular diagnostic workup of myeloid neoplasms, including mutation panels and their WHO/ICC classification relevance
Compare MRD assessment approaches (flow, PCR, NGS) on sensitivity and clonal tracking limitations
Explain fusion detection strategies (FISH, RNA-seq, DNA-based panels) and their discordance sources
Your checkpoint
A somatic variant interpretation report for a fictional solid tumor case and a fictional myeloid case, each with tier classification and clinical implications
Hematologic Malignancies and Molecular Hematopathology & Infectious Disease Molecular Diagnostics
Interpret clonality testing (IGH/TCR rearrangement) results including pseudoclonality and false-negative scenarios
Explain the role of molecular testing in lymphoma diagnosis when morphology and immunophenotype are ambiguous
Compare NAAT, sequencing, and syndromic panel approaches for respiratory and GI pathogen detection
Interpret quantitative viral load results including internal control failures and genotype effects on quantification
Evaluate resistance mutation panels and explain how minority variant thresholds affect reporting
Your checkpoint
A two-part written assessment: one hematopathology clonality case interpretation and one infectious disease viral load plus resistance interpretation
Pharmacogenomics, Identity Testing, and Related Molecular Applications & Quality Assurance, Validation, and Laboratory Regulatory Standards
Interpret pharmacogenomic results for CYP2D6, CYP2C19, TPMT/NUDT15, and DPYD including phenotype assignment and copy-number complications
Explain identity testing calculations (CPI, probability of paternity) and STR artifact recognition
Design a QC plan covering contamination monitoring, controls, and proficiency testing for a molecular laboratory
Identify preanalytical variables that alter molecular results and specify rejection criteria
Your checkpoint
A pharmacogenomic reporting template with phenotype-to-recommendation mapping plus a one-page laboratory QC plan
Molecular Biology Fundamentals and Nucleic Acid Chemistry & Molecular Techniques and Assay Design (amplification, hybridization, sequencing, microarrays) & Quality Assurance, Validation, and Laboratory Regulatory Standards & Inherited Mendelian Disorders and Germline Variant Interpretation & Cancer Genetics and Somatic Molecular Oncology & Hematologic Malignancies and Molecular Hematopathology & Infectious Disease Molecular Diagnostics & Pharmacogenomics, Identity Testing, and Related Molecular Applications & Cytogenetics, Genomic Medicine, and Bioinformatics
Synthesize all domains by working through integrated multi-domain cases under timed conditions
Identify and remediate the three weakest domains based on practice-question performance
Recite key thresholds, guidelines, and classification frameworks from memory without references
Build a personal error log with corrective actions for recurring mistake patterns
Your checkpoint
A completed timed mock exam with a scored error log and a written remediation plan for the three weakest domains
Milestones
Week 2: Can explain, without notes, the tradeoffs among PCR, isothermal, Sanger, NGS, microarray, and MLPA for a given clinical question, and has a complete validation protocol outline
Week 4: Scores at least 80% on a self-made 25-item germline interpretation quiz covering ACMG criteria, PVS1 logic, CNV interpretation, and ROH
Week 6: Correctly interprets both a clonality case and a quantitative viral load case with resistance interpretation, citing specific pitfalls in each
Week 8: Completes the timed mock exam with a documented score, a written error log, and a remediation plan identifying the three weakest domains