Core

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