Cytogenetics Technician

The Cytogenetics Technician/Specialist performs high-complexity cytogenetic testing, including Karyotyping, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray (CMA). Responsibilities include specimen processing, cell culture, harvesting, slide preparation, staining, imaging, scoring, microarray processing, QC documentation, and compliance with CAP standards. The role supports accurate diagnostic analysis for prenatal, postnatal, hematologic, and oncology cases.

Responsibilities

• Receive, verify, accession, and label cytogenetic specimens (blood, bone marrow, amniotic fluid, CVS, tissue).

• Assess specimen suitability and ensure proper chain-of-custody and storage conditions.

• Perform cell culture setup for peripheral blood, bone marrow, prenatal, and solid tissue samples.

• Monitor cultures, evaluate growth, perform mitogen stimulation, and adjust conditions as needed.

• Execute hypotonic treatment, fixation, and slide preparation for high-quality metaphase spreads.

• Perform G-banding and other banding techniques to prepare slides for karyotype analysis.

• Capture metaphase images using cytogenetic imaging systems.

• Pre-select metaphases and identify abnormalities for review by cytogeneticists.

• Perform FISH procedures: slide preparation, probe hybridization, washing, counterstaining.

• Score interphase and metaphase FISH signals according to ACMG and laboratory criteria.

• Process chromosomal microarray tests including DNA extraction, quantification, labeling, hybridization, and scanning.

• Review initial CMA quality metrics (signal intensity, call rate, noise scores) and report deviations.

• Document QC activities, reagent lot numbers, deviations, and corrective actions.

• Maintain CO₂ incubators, fluorescence microscopes, scanners, and cytogenetic workstations.

• Track reagent usage, maintain inventory, and ensure availability of critical materials.

• Record data in LIS ensuring accuracy, completeness, and compliance with data integrity policies.

• Assist in validation/verification of new cytogenetic assays, probes, reagents, and instruments.

• Participate in internal and external QA programs including CAP proficiency testing.

• Follow biosafety protocols.

• Support SOP updates, workflow optimization, and continuous improvement initiatives.

• • Perform other related duties as assigned by laboratory management.

Qualifications

• Bachelor's degree in Medical Laboratory Technology, Genetics, Molecular Biology, Biomedical Sciences, or related field.

• Valid SCFHS license as Technician or Specialist.

• Training in cytogenetics (karyotyping, FISH, microarray) is preferred.

Professional Experience

• Minimum 1 year experience in cytogenetics laboratory (Technician level).

• 2–4 years experience performing karyotyping, FISH, and/or CMA testing (Specialist level).

Skills & Competencies

• Strong cytogenetic wet-lab skills including culture, harvesting, slide preparation, and staining.

• Proficiency in imaging systems.

• Knowledge of common chromosomal abnormalities and cytogenetic patterns.

• Understanding of ACMG cytogenetic guidelines and ISCN nomenclature.

• High attention to detail, excellent pattern-recognition abilities, and accuracy in signal scoring.

• Strong communication, teamwork, and documentation skills.

• Ability to manage high-volume workloads and meet clinical turnaround times.