Fundamentals of Molecular Diagnostics

Author: Lori Woeste, EdD, MS
Reviewers: Joshua J. Cannon, MS, MLS(ASCP)CMSHCM and Julie Ann West, PhD, MLS(ASCP)CMSM(ASCP)CM
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Continuing Education Credits

P.A.C.E.® Contact Hours: 1.5 hour(s)

Florida Board of Clinical Laboratory Science CE Credit Hours

Florida Board of Clinical Laboratory Science CE - General (Molecular Pathology): 1.5 hour(s)

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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.

Objectives

  • 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
    • Gene Expression
    • Types of RNA
    • 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-examination Variables
    • Transport
    • Resources
    • All of the following are examples of pre-examination variables that affect molecular methodologies, except:
    • When collecting blood samples, one anticoagulant to avoid, especially when performing PCR is:
  • Methodology Classifications
    • Classification
    • Classification, continued
    • Targets of interest may include any of the following, except:
  • 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
    • Clinical Applications Overview
    • Why Choose a Molecular Method?
    • Selection
    • When Nucleic Acids Become Altered
    • Infectious Diseases
    • Pharmacogenomics
    • Genotypic Assays
    • 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 is considered an advantage of molecular testing?
  • References
    • References

Additional Information

Level of instruction: Intermediate

Intended Audience: Medical laboratory scientists, medical laboratory technicians, laboratory supervisors, and laboratory managers. This course is also appropriate for MLS and MLT 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 Master's degree in Health and a Doctorate in curriculum and instruction. She has taught introductory and advanced courses in clinical chemistry and clinical biochemistry.
The author has no conflict of interest to disclose. 
Reviewer Credentials:
Joshua J. Cannon, MS, MLS(ASCP)CMSHCM received his Bachelor of Science and Master of Science in Medical Laboratory Science from Thomas Jefferson University in Philadelphia, PA. He holds Medical Laboratory Scientist and Specialist in Hematology certifications through the ASCP Board of Certification. He was a professor at Thomas Jefferson University for seven years before transitioning into his current role as Education Developer at MediaLab by Vastian. His areas of expertise and professional passions include clinical hematology and interprofessional education. 
Dr. Julie Ann West is certified by the American Society for Clinical Pathology (ASCP) as a Medical Laboratory Scientist (MLS) and as a Specialist in Microbiology (SM). In addition, Dr. West has earned a PhD in Public Health - Infectious Disease Epidemiology - and is Certified in Public Health (CPH) by the National Board of Public Health Examiners. Dr. West is experienced as a Technical Specialist, Safety Officer, Educator, and Lead in the Veterans Administration Healthcare System, and has prior experience as an Administrative Laboratory Director.
Course Description: This course provides an introduction 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.