LabQ Clinical 2025 Exercise 13: Molecular Pathology: An Unusual JAK2 Mutation Affects the Detection Sensitivity of Allele-Specific Quantitative Polymerase Chain Reaction (AS-qPCR) Assay

Author(s)

Linsheng Zhang, MD, PhD

Associate Professor

Emory University School of Medicine

Atlanta, Georgia

Primary Audience: Pathologists and Clinical Scientists
Secondary Audience: Residents, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants,  Laboratory Directors and Educators

Upon completion of this activity, you will be able to:

·       list the common driver mutations in myeloproliferative neoplasms (MPN);

·       discuss the pathophysiology of the most common MPN mutations;

·       explain the allele-specific quantitative polymerase chain reaction (AS-qPCR) for single nucleotide mutation detection; and

·       explain how to follow up on the unusual result from single gene mutation tests.