Quality Assurance/Quality Control of Fluorescence in Situ Hybridization Tests in Hematologic Malignancies

Abstract

Because of its’ simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS) [1-4]. In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center, over 15,000 FISH tests are performed each year, including approximately 1,000 BCR-ABL1 and 500 MYC FISH tests, respectively. In this chapter, we introduce the quality assurance/quality control (QA/QC) measurements applied for FISH tests by following the American College of Medical Genetics and Genomics (ACMGG) technical standards and guidelines [5]. We believe that these measurements are essential for high-quality clinical diagnosis services provided by a clinical laboratory. The BCR-ABL1 FISH test using a commercial fusion probe set on cell suspensions of bone marrow (BM) and peripheral blood (PB) specimen and MYC FISH test using a commercial break-apart probe on paraffin-embedded tissue specimen are shown here as examples. For the use of home-brew FISH probes and FDA-approved FISH test kits, some different QA/QC measurements need be taken and are not included in this chapter.