Molecular Genetic Pathology

Molecular Genetic Pathology Exam Description

The examination in molecular genetic pathology is a one-day, computer-based examination consisting of combined Written and Practical questions in each section of the examination. It is administered as follows:

Molecular Genetic Pathology ExamTotal Number of QuestionsTotal Time
 Written/Practical Sections Approximately 245Approximately 6 1/2 Hrs.

All questions are multiple-choice and in the one-best answer format. The questions are designed to measure the candidate’s body of knowledge and problem-solving ability. Questions may include nucleic acid-based testing, karyotypes, sequencing or array data, graphs, pedigrees, or other images.

Subject areas covered include, but are not limited to:

  • 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
  • Inherited disorders of single and multiple genes and genes of mitochondrial origin
  • Neoplastic diseases and other acquired disorders
  • Infectious diseases
  • Identity testing, histocompatibility, immunologic diseases, and forensic testing
  • Pharmacogenomic testing
  • Informatics

Codon Table and Amino Acids and their Abbreviations


Subspecialty Exam Blueprints and Daily Schedules