ABMGG Molecular Genetic Pathology study guide
ABMGG Molecular Genetic Pathology · Work through your exam, one topic at a time.
The ABMGG Molecular Genetic Pathology (MGP) subspecialty certification is a credential for physicians who have completed relevant residency training and an accredited MGP fellowship and who want to demonstrate competence in laboratory-based molecular diagnostics. It is aimed at pathologists and clinical geneticists who direct or interpret molecular testing rather than at research scientists. The ABMGG Molecular Genetic Pathology study guide has 9 sections and about 2,759 words.
01Molecular Biology Fundamentals and Nucleic Acid Chemistry
Candidates must be fluent in the structure and physical chemistry that underpins every downstream assay: Watson-Crick base pairing and hydrogen-bond counts (G≡C three, A=T two), base stacking as the dominant stabilizing force, the antiparallel double helix, and the distinction between the major and minor grooves. Know the difference between the phosphodiester backbone (covalent, nuclease-labile) and the hydrogen-bonded base pairs (noncovalent, denaturable).
349 words, about 2 min02Molecular Techniques and Assay Design
Know the architecture of PCR (denaturation, annealing, extension), real-time chemistries (TaqMan hydrolysis probes, molecular beacons, SYBR intercalation, scorpions), and the meaning of Cq/Ct. Understand multiplexing constraints (primer-probe competition, limited dNTP/enzyme, spectral overlap of fluorophores), and the design rules for primers and probes (length, GC content, Tm matching, avoidance of SNPs under the 3' end, amplicon size).
342 words, about 2 min03Quality Assurance, Validation, and Laboratory Regulatory Standards
Know the regulatory landscape: CLIA '88 (CMS) governs clinical testing; FDA regulates test kits and, historically, laboratory-developed tests (LDTs); CAP provides accreditation and checklists aligned with CLIA. Understand test categories (waived, moderate, high complexity), personnel qualifications, and the requirement that an LDT be validated by the performing laboratory before clinical use.
330 words, about 2 min04Inherited Mendelian Disorders and Germline Variant Interpretation
Master inheritance patterns (autosomal dominant/recessive, X-linked, mitochondrial, imprinting), penetrance, expressivity, anticipation, and mosaicism. Understand variant nomenclature (HGVS), classification using ACMG/AMP criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7), and the five-tier system (pathogenic, likely pathogenic, VUS, likely benign, benign).
312 words, about 2 min05Cancer Genetics and Somatic Molecular Oncology
Distinguish germline from somatic testing (specimen type, VAF interpretation, tumor purity). Know driver vs passenger alterations, oncogenes (gain-of-function, often activating hotspots) vs tumor suppressors (loss-of-function, often two-hit).
292 words, about 1 min06Hematologic Malignancies and Molecular Hematopathology
Know the molecular hallmarks of hematologic neoplasms: BCR-ABL1 (CML, Ph+ ALL), PML-RARA (APL), RUNX1-RUNX1T1, CBFB-MYH11, and the role of JAK2 V617F, CALR, and MPL in myeloproliferative neoplasms. Understand clonality assessment (Ig/TCR gene rearrangement, X-inactivation), minimal residual disease (MRD) monitoring by RQ-PCR or NGS, and the distinction between diagnostic, prognostic, and monitoring markers.
287 words, about 1 min07Infectious Disease Molecular Diagnostics
Understand nucleic acid amplification testing (NAAT) design for pathogens: target selection (conserved regions, multicopy genes for sensitivity), inclusivity (all relevant strains) and exclusivity (no cross-reactivity), and the role of internal controls. Know the difference between qualitative detection and quantitative viral load, and the clinical meaning of each.
290 words, about 1 min08Pharmacogenomics, Identity Testing, and Related Molecular Applications
Know the core genes and their clinical implications: CYP2D6, CYP2C19, CYP2C9, TPMT/NUDT15, DPYD, HLA-B 57:01, HLA-B 15:02, and VKORC1. Understand star allele nomenclature, phenotype categories (poor, intermediate, normal, rapid/ultrarapid metabolizer), and how copy number and structural variation affect CYP2D6.
270 words, about 1 min09Cytogenetics, Genomic Medicine, and Bioinformatics
Know the resolution and use of karyotyping, FISH, CMA (chromosomal microarray), and sequencing. Understand constitutional vs acquired abnormalities, mosaicism detection limits, and the interpretation of copy-number variants (benign, likely benign, VUS, pathogenic) using ClinGen/ACMG CNV frameworks.
287 words, about 1 min