Description
Perform cytogenetic testing on specimens such as amniotic fluid, bone marrow, solid tumors, and blood to support the study, diagnosis, classification, and treatment of inherited or acquired genetic disorders. Conduct analyses using classical cytogenetics, FISH, and array comparative genome hybridization (aCGH) in compliance with laboratory and regulatory standards.
- • Train and mentor trainees, students, and residents in cytogenetic procedures.
- • Summarize and report test results to authorized personnel.
- • Select and prepare specimens and culture media using aseptic techniques.
- • Choose banding methods to identify chromosome pairs.
- • Define appropriate specimen collection, preservation, and transport methods.
- • Prepare culture slides following standard procedures.
- • Prepare and store media to maintain pH, sterility, and growth support.
- • Harvest cell cultures using mitotic arrestants, cell releasing agents, and fixatives.
- • Create chromosome images using digital imaging systems.
- • Determine optimal timing and methods for manual or automated cell harvests.
- • Examine chromosomes in biological specimens to detect abnormalities.
- • Recognize and report cellular abnormalities in color, size, shape, composition, or pattern.
- • Communicate results and technical information to authorized recipients.
- • Prepare amniotic fluid, bone marrow, tumors, chorionic villi, and blood for chromosome examination.
- • Count chromosomes and identify structural abnormalities using microscopes.
- • Arrange chromosomes into karyotypes using standard practices and nomenclature.
- • Analyze chromosomes to aid diagnosis and treatment of congenital, fertility, and hematologic disorders.
- • Enter specimen details into logs or computer systems.
- • Maintain microscopes, imaging systems, and related laboratory equipment.
- • Supervise or guide junior laboratory staff as assigned.
- • Select culturing systems or procedures based on specimen type and clinical indication.
- • Describe karyotype, FISH, and aCGH results using ISCN nomenclature.
- • Extract, quantify, dilute, label, and prepare DNA for array analysis.
- • Record specimen processing, analyses, and technical issues in the LIS.
- • Apply specimens and controls to arrays or slides, operate instruments, and generate analyzable data.
- • Implement and monitor quality control and quality assurance procedures.
- • Evaluate received specimens for acceptability and test suitability.
- • Notify submitters of unacceptable specimens and recommend corrective actions.
- • Archive case documentation and materials per regulatory requirements.
- • Stain slides to visualize chromosomes for microscopy.
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Last reviewed: Jan 2026
