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Analyze chromosomes found in biological specimens to aid diagnoses and treatments for genetic diseases such as congenital disabilities, fertility problems, and hematological disorders.
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Supervise subordinate laboratory staff.
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Identify appropriate methods of specimen collection, preservation, or transport.
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Archive case documentation and study materials as required by regulations and laws.
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Communicate to responsible parties unacceptable specimens and suggest remediation for future submissions.
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Create chromosome images using computer imaging systems.
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Select appropriate methods of preparation and storage of media to maintain potential of hydrogen (pH), sterility, or ability to support growth.
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Describe chromosome, FISH and aCGH analysis results in International System of Cytogenetic Nomenclature (ISCN) language.
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Determine optimal time sequences and methods for manual or robotic cell harvests.
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Maintain laboratory equipment such as photomicroscopes, inverted microscopes, and standard darkroom equipment.
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Evaluate appropriateness of received specimens for requested tests.
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Input details of specimens into logs or computer systems.
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Prepare biological specimens such as amniotic fluids, bone marrow, tumors, chorionic villi, and blood, for chromosome examinations.
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Count numbers of chromosomes and identify the structural abnormalities by viewing culture slides through microscopes, light microscopes, or photomicroscopes.
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Arrange and attach chromosomes in numbered pairs on karyotype charts, using standard genetics laboratory practices and nomenclature, to identify normal or abnormal chromosomes.
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Develop, implement, and monitor quality control and quality assurance programs to ensure accurate and precise test performance and reports.
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Examine chromosomes found in biological specimens to detect abnormalities.
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Communicate test results or technical information to patients, physicians, family members, or researchers.
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Apply prepared specimen and control to appropriate grid, run instrumentation, and produce analyzable results.
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Recognize and report abnormalities in the color, size, shape, composition, or pattern of cells.
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Harvest cell cultures using substances such as mitotic arrestants, cell releasing agents, and cell fixatives.
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Select appropriate culturing system or procedure based on specimen type and reason for referral.
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Prepare slides of cell cultures following standard procedures.
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Select banding methods to permit identification of chromosome pairs.
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Stain slides to make chromosomes visible for microscopy.
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Summarize test results and report to appropriate authorities.
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Extract, measure, dilute as appropriate, label, and prepare DNA for array analysis.
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Develop and implement training programs for trainees, medical students, resident physicians or post-doctoral fellows.
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Select or prepare specimens and media for cell cultures using aseptic techniques, knowledge of medium components, or cell nutritional requirements.
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Input details of specimen processing, analysis, and technical issues into logs or laboratory information systems (LIS).