14. Development of Amplifi cation-Based Molecular Genetic Testing in Hematology

  1. Kandice Kottke-Marchant MD, PhD3,4,5 and
  2. Bruce H. Davis MD6
  1. Raymond R. Tubbs DO1,2

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch14

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Tubbs, R. R. (2012) Development of Amplifi cation-Based Molecular Genetic Testing in Hematology, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch14

Editor Information

  1. 3

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 4

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 5

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 6

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Department of Molecular Pathology, Pathology and Laboratory Medicine Institute, Cleveland Clinic, OH, USA

  2. 2

    Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • molecular hematopathology;
  • real-time polymerase chain reaction (PCR);
  • molecular beacons;
  • scorpion probes;
  • FRET analysis


Molecular hematopathology assays using derivative DNA or RNA play an increasingly important role in the diagnosis and classification of many malignant and non-neoplastic hematologic disorders. For some diseases, particularly the acute leukemias, molecular abnormalities such as translocations and deletions form the definitional basis for the disease. Amplification of DNA or RNA by polymerase chain reaction (PCR) followed by fragment analysis using capillary electrophoresis-based methods, real-time PCR, and reverse transcription (RT)-PCR are robust and usually offer sufficient technologic sophistication to perform most molecular hematopathology assays and detect the molecular abnormality of interest; only rarely is direct sequencing required, and in those instances only as a confirmatory test. The laboratory director is responsible for designing, assembling, and executing an appropriate validation set and maintaining quality assurance for a new molecular genetic pathology assay.