Fundamentals of Molecular Diagnostics

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Author: Lori Woeste, EdD, MS
Reviewer: David J. Moffa, PhD, BCLD

This course is a comprehensive introduction to the basic principles of the rapidly growing field of molecular diagnostics. Beginning with an overview of essentials and unique terminology, the course addresses many direct and amplified nucleic acid test methods. Specimen handling, and the clinical applications, advantages, and disadvantages of molecular diagnostics are also covered. Most importantly, the principles behind molecular diagnostics are presented in detail, giving you a strong foundation for future exploration and study in molecular diagnostics.

Continuing Education Credits


  • Define terms related to molecular diagnostics.
  • Identify appropriate specimen collection and handling measures for molecular diagnostics.
  • Classify the various molecular methodologies.
  • Outline examples of procedures for each molecular diagnostic classification.
  • Describe the principle of each procedure.
  • Discuss clinical applications of molecular diagnostics.

Course Outline

  • Molecular Diagnostics
      • Overview
      • Overview, cont.
      • Targets
      • Basis of Molecular Testing
      • Nucleotides
      • Writing the Code
      • Types of Nucleic Acid Synthesis
      • Human Genome
      • Which of the following types of RNA is responsible for amino acid transport?
      • Which of these nucleotide bases is present in DNA but is replaced by Uracil in RNA?
  • Terms
      • Unique Terminology
      • Terms and Definitions
      • Match the following terms with the most appropriate response:
      • The three base nucleotide sequence that provides the information necessary to identify an amino acid is termed a(n):
  • Specimen Collection & Handling
      • Overview
      • Specimen Collection and Handling
      • Pre-analytical Variables
      • Transport
      • Resources
      • Which of the following are examples of preanalytical variables that affect molecular methodologies?
      • When collecting blood samples, one anticoagulant to avoid, especially when performing PCR is:
  • Methodology Classifications
      • Classification
      • Classification, cont.
      • Targets of interest can include:
  • Classification Specific Procedures
      • Overview
      • Direct Nucleic Acid Testing
      • Amplified Nucleic Acid Testing
      • Which of the following is not an example of an amplification method?
  • Procedure Principles
      • Direct Nucleic Acid Testing Principle
      • Direct Nucleic Acid Tests
      • Amplified Nucleic Acid Testing Principle
      • Amplified Nucleic Acid Tests
      • Amplification
      • Thermal Cycling
      • Amplification Issues
      • Hybridization
      • Factors Affecting Hybridization
      • Detection
      • Match the following detection techniques with the most appropriate description:
      • Which of the following steps is not included in a direct nucleic acid test?
      • Match the following tests to their appropriate principle:
  • Clinical Applications
      • Overview
      • Why Choose a Molecular Method?
      • Selection
      • When Nucleic Acids Get Altered
      • Infectious Diseases
      • Pharmacogenetics
      • Pharmacogenetics
      • Advantages of Molecular Testing
      • Disadvantages of Molecular Testing
      • What is the name of the substitution nucleic acid alteration that causes a coding for a different amino acid?
      • Which of the following are considered advantages of molecular testing?
  • References
      • References

Additional Information

Level of instruction: Intermediate

Intended Audience: Clinical laboratory technologists and technicians, and other health care personnel who have an interest in this subject matter. This course is also appropriate for clinical laboratory science students and pathology residents.
Author Credentials: Lori Woeste, EdD, MS is an Assistant Professor in the Clinical Laboratory Science Program at Illinois State University in Normal, Illinois. She holds a Masters degree in Health and a Doctorate  in curriculum and instruction. She has taught introductory and advanced courses in clinical chemistry and clinical biochemistry.
Reviewer Credentials:  David Moffa, PhD, has over 30 years of experience in the health care industry as an executive manager, clinical laboratory director, and medical laboratory scientist. He is currently a technical consultant for Kentmere Healthcare, Wilmington, DE, and until his retirement, was the Regional Director for LabCorp, Inc. He holds a PhD in medical biochemistry from the School of Medicine, West Virginia University.
Course Description: This course introduces you to the basic principles of molecular diagnostics and the associated terminology. Several direct and amplified nucleic acid test methods are presented and clinical applications are discussed.

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Viral bacteriophage with DNA from Shutterstock
Electrophoresis example
Single nucleotide polymorphism substitution mutation diagram