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