Description
Analyze chromosomes or chromosome segments found in biological specimens, such as amniotic fluids, bone marrow, solid tumors, and blood to aid in the study, diagnosis, classification, or treatment of inherited or acquired genetic diseases. Conduct analyses through classical cytogenetic, fluorescent in situ hybridization (FISH) or array comparative genome hybridization (aCGH) techniques.
- • 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.
- • Communicate test results or technical information to patients, physicians, family members, or researchers.
- • 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.
- • 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.
- • Extract, measure, dilute as appropriate, label, and prepare DNA for array analysis.
- • 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.
- • Analyze chromosomes found in biological specimens to aid diagnoses and treatments for genetic diseases such as congenital disabilities, 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.
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Last reviewed: Jan 2026
