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The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Automation in the <strong>Cytogenetics</strong> Laboratory 113<br />

INTRODUCTION<br />

Instrumentation in the <strong>Cytogenetics</strong> Laboratory<br />

Steven L. Gersen, PhD and Lotte Downey<br />

Ask anyone to envision a typical clinical laboratory, and a host <strong>of</strong> blinking, whirring, computercontrolled<br />

machines that analyze samples and spit out results usually comes to mind. Even traditionally<br />

labor-intensive settings, such as the cytology laboratory are frequently populated by automatic<br />

stainers, and machines that prepare and automatically analyze pap smears are becoming ever more<br />

popular.<br />

This image does not hold up when one takes a closer look at the modern cytogenetics laboratory.<br />

Although certain procedures have been automated in recent years, most processes are still performed<br />

manually. One message that the reader should take away from this chapter, therefore, is that although<br />

technology can be utilized in any setting, the world <strong>of</strong> cytogenetics is still essentially one <strong>of</strong> manual<br />

manipulation and diagnosis.<br />

Nevertheless, no description <strong>of</strong> the steps involved in producing a cytogenetic diagnosis would be<br />

complete without mention <strong>of</strong> the instrumentation that has been developed to assist the chromosome<br />

laboratory. Such instrumentation can help with both sample preparation and chromosome analysis<br />

and falls into several basic categories: robotic harvesters, environmentally controlled drying chambers,<br />

and computerized imaging systems, which can also include automation <strong>of</strong> certain microscopy<br />

steps. <strong>The</strong>re have also been devices developed to eliminate some <strong>of</strong> the manual steps involved in<br />

performing fluorescence in situ hybridization (FISH) analysis. It should be pointed out that some<br />

cytogenetics laboratories use all <strong>of</strong> these devices, most use one or two, and some do not use any.<br />

ROBOTIC HARVESTERS<br />

As described in Chapter 4, harvesting <strong>of</strong> mitotic cells for cytogenetic analysis involves exposing<br />

the cells to a series <strong>of</strong> reagents that separate the chromosomes, fix them, and prepare them for the<br />

banding and staining process. This traditionally involves pelleting the cells by centrifugation between<br />

steps, in order to aspirate one reagent and add another, a process that, by its very nature, is not<br />

amenable to any form <strong>of</strong> automation. However, the in situ method <strong>of</strong> culture and harvest <strong>of</strong> amniotic<br />

fluid (and other) specimens requires that the cells remain undisturbed in the vessel in which they<br />

were cultured. <strong>The</strong>refore, reagents are removed and added without the need to collect the cells in a<br />

tube that can be centrifuged. If the culture vessel is a Petri dish with a removable cover or a similar<br />

type <strong>of</strong> “chamber slide,” the harvest process does lend itself to automation.<br />

Webster defines a robot as “. . . an automatic apparatus or device that performs functions ordinarily<br />

ascribed to human beings. . . .” In this context, those functions are aspiration <strong>of</strong> the growth<br />

medium from the culture dish, addition <strong>of</strong> a hypotonic solution, and, after an appropriate incubation<br />

time, removal <strong>of</strong> the hypotonic solution and addition <strong>of</strong> several changes <strong>of</strong> fixative, each with its own<br />

duration. What is required, then, is a device that can both aspirate and dispense liquids, monitor the<br />

From: <strong>The</strong> <strong>Principles</strong> <strong>of</strong> <strong>Clinical</strong> <strong>Cytogenetics</strong>, Second Edition<br />

Edited by: S. L. Gersen and M. B. Keagle © Humana Press Inc., Totowa, NJ<br />

113<br />

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