Analyzes chromosomes found in biological specimens such as amniotic fluids, bone marrow, and blood to aid in the study, diagnosis, or treatment of genetic diseases.
This career is part of the Health Science cluster Diagnostic Services pathway.
A person in this career:
- Counts numbers of chromosomes and identifies the structural abnormalities by viewing culture slides through microscopes, light microscopes, or photomicroscopes.
- Arranges and attaches chromosomes in numbered pairs on karyotype charts, using standard genetics laboratory practices and nomenclature, to identify normal or abnormal chromosomes.
- Analyzes chromosomes found in biological specimens to aid diagnoses and treatments for genetic diseases such as congenital birth defects, fertility problems, and hematological disorders.
- Examines chromosomes found in biological specimens to detect abnormalities.
- Creates chromosome images using computer imaging systems.
- Selects appropriate culturing system or procedure based on specimen type and reason for referral.
- Harvests cell cultures using substances such as mitotic arrestants, cell releasing agents, and cell fixatives.
- Summarizes test results and reports to appropriate authorities.
- Describes chromosome, FISH and aCGH analysis results in Internations System of Cytogenetic Nomenclature (ISCN) language.
- Prepares slides of cell cultures following standard procedures.