ABPath Molecular Genetic Pathology case studies
ABPath Molecular Genetic Pathology · Put your knowledge to work in context.
Molecular Genetic Pathology (MGP) is an ABPath subspecialty certification examination, offered in cooperation with the American Board of Medical Genetics and Genomics, for pathologists who want formal recognition of subspecialty expertise in molecular diagnostics. It is a one-day, computer-based exam that combines written and practical questions in each section, and every item is multiple-choice in the one-best answer format. The exam is designed to measure both a candidate's body of knowledge and problem-solving ability; individual questions may present nucleic acid-based testing scenarios, karyotypes, sequencing or array data, graphs, pedigrees, or other images. Content spans normal molecular structure and function, molecular techniques and methods, human genetic principles, laboratory quality and regulatory issues, inherited and mitochondrial disorders, neoplastic and other acquired diseases, infectious diseases, identity and histocompatibility testing, pharmacogenomics, and informatics. The ABPath Molecular Genetic Pathology case studies are 5 cases and about 2,036 words.
1Tumor-Only Sequencing Reveals Suspected Germline TP53 Variant
A 42-year-old woman with high-grade serous ovarian carcinoma undergoes tumor-normal paired sequencing using a 500-gene panel. The tumor sample is from a paraffin-embedded omental biopsy with 30% tumor cellularity.
427 words, about 2 min2Mitochondrial DNA Variant with Low Heteroplasmy in Blood
A 28-year-old man presents with bilateral optic atrophy, ataxia, and peripheral neuropathy. His mother has mild hearing loss and diabetes, and his maternal uncle had a stroke-like episode at age 35.
410 words, about 2 min3Pharmacogenomic DPYD Variant and 5-Fluorouracil Dosing
A 65-year-old man with stage III colon cancer is scheduled to receive adjuvant FOLFOX (5-fluorouracil, leucovorin, oxaliplatin). Before starting, the oncology team orders a pharmacogenomic panel that includes DPYD genotyping.
388 words, about 2 min4Non-Invasive Prenatal Testing Fails Due to Low Fetal Fraction
A 38-year-old woman at 12 weeks gestation undergoes non-invasive prenatal testing (NIPT) for fetal aneuploidy. The laboratory uses massively parallel sequencing of cell-free DNA (cfDNA) from maternal plasma.
401 words, about 2 min5Forensic Identity Testing with a Degraded Sample
A forensic laboratory receives a bone sample from a 20-year-old cold case. The sample is highly degraded, and the DNA yield is low (0.1 ng/µL).
410 words, about 2 min