cytogenetic technician Interview Questions and Answers
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What is a karyotype, and how is it used in cytogenetics?
- Answer: A karyotype is a visual representation of a complete set of chromosomes from a cell. It's used to identify chromosomal abnormalities like trisomies (e.g., Down syndrome), monosomies, translocations, and deletions, which can cause genetic disorders or cancers. Analysis of the karyotype helps in diagnosis and prognosis.
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Describe the process of preparing chromosomes for karyotyping.
- Answer: The process involves culturing cells (e.g., blood lymphocytes), arresting them in metaphase using colchicine, hypotonic treatment to swell the cells and spread the chromosomes, fixation, and staining (e.g., Giemsa) to visualize banding patterns. Slides are then prepared and analyzed microscopically.
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Explain different types of chromosome banding techniques (e.g., G-banding, Q-banding, R-banding).
- Answer: G-banding (Giemsa banding) is the most common, producing light and dark bands along chromosomes based on differential staining of AT-rich and GC-rich regions. Q-banding uses quinacrine mustard and fluorescence microscopy, producing similar banding patterns. R-banding (reverse banding) produces a reverse pattern of G-banding, highlighting different regions of the chromosomes.
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What are some common chromosomal abnormalities detected through karyotyping?
- Answer: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), Turner syndrome (monosomy X), Klinefelter syndrome (XXY), Cri du chat syndrome (deletion on chromosome 5), Philadelphia chromosome (translocation in chronic myeloid leukemia).
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What is FISH (fluorescence in situ hybridization) and how does it differ from karyotyping?
- Answer: FISH uses fluorescently labeled DNA probes to detect specific DNA sequences on chromosomes. Unlike karyotyping, which analyzes the whole chromosome set, FISH targets specific genes or chromosomal regions. It offers higher resolution for detecting smaller abnormalities and can be performed on interphase cells.
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Explain the principles of comparative genomic hybridization (CGH).
- Answer: CGH compares the amount of DNA from a test sample to a reference sample. It identifies copy number variations (CNVs) – gains or losses of chromosomal material. Labeled test and reference DNA are hybridized to a microarray, and the relative fluorescence intensities reveal CNVs.
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What are array CGH and its advantages over traditional CGH?
- Answer: Array CGH uses microarrays with thousands of DNA probes, providing much higher resolution than traditional CGH. It can detect smaller CNVs, including submicroscopic deletions and duplications, which may be missed by traditional methods.
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What is a chromosomal translocation, and what are its potential consequences?
- Answer: A chromosomal translocation is a rearrangement where part of one chromosome breaks off and attaches to another non-homologous chromosome. Consequences can include disruption of genes at the breakpoint, leading to various genetic disorders, or formation of fusion genes that drive cancer development (e.g., Philadelphia chromosome in CML).
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Describe the role of a cytogenetic technician in prenatal diagnosis.
- Answer: Cytogenetic technicians perform karyotyping and other cytogenetic tests on fetal cells obtained through amniocentesis or chorionic villus sampling. They identify chromosomal abnormalities that may cause birth defects, providing crucial information for genetic counseling.
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How is cytogenetics used in cancer diagnosis and prognosis?
- Answer: Karyotyping and other cytogenetic techniques (FISH, CGH) are used to detect chromosomal abnormalities in cancer cells. Specific chromosomal changes can indicate the type of cancer, predict its aggressiveness, and guide treatment decisions. For example, identifying the Philadelphia chromosome in leukemia guides treatment choices.
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What are some safety precautions to be taken while handling cytogenetic samples and reagents?
- Answer: Following standard biosafety practices, including wearing appropriate personal protective equipment (PPE) like gloves, lab coats, and eye protection. Using biological safety cabinets for handling potentially infectious samples, proper disposal of hazardous waste, and adherence to strict aseptic techniques to avoid contamination are crucial.
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Explain the importance of quality control in cytogenetics.
- Answer: Quality control ensures accurate and reliable results. It involves using positive and negative controls, regular calibration of equipment, proper sample handling, and adherence to standardized protocols. This minimizes errors and ensures the accuracy of diagnoses.
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What is the role of a cytogenetic technician in reporting results?
- Answer: The technician carefully analyzes the results of cytogenetic tests (karyotypes, FISH, microarray data), interprets the findings according to established guidelines, and prepares a detailed report that clearly describes the chromosomal abnormalities detected, and their clinical significance. This report is essential for physicians and genetic counselors.
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How do you ensure the accuracy and reliability of your work as a cytogenetic technician?
- Answer: By strictly adhering to standard operating procedures, performing quality control checks at each step, double-checking results, maintaining meticulous records, participating in proficiency testing programs, and continuously updating knowledge and skills in cytogenetics.
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Describe your experience with different types of microscopes used in cytogenetics.
- Answer: [Candidate should detail experience with brightfield, fluorescence, and potentially inverted microscopes. Mention experience with image capture and analysis software. If no direct experience, they should mention familiarity and willingness to learn.]
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What software or image analysis systems are you familiar with?
- Answer: [Candidate should list specific software used for karyotype analysis, FISH analysis, or image processing. Examples include CytoVision, Ikaros, or other relevant software.]
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What are your skills in data entry and record keeping?
- Answer: [Candidate should describe their proficiency in data entry, attention to detail, accuracy in record keeping, and experience with relevant laboratory information management systems (LIMS).]
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How do you handle challenging or ambiguous results in cytogenetics?
- Answer: I would carefully review the slides and data, consult with experienced colleagues or supervisors, review relevant literature, and if necessary, repeat the test to confirm the results. If still ambiguous, I would document the uncertainty and discuss the findings with the pathologist or clinical geneticist.
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Describe your experience with cell culture techniques.
- Answer: [Candidate should detail experience with cell culture techniques including media preparation, cell passaging, and maintaining cell viability. Mention specific cell types cultured if applicable.]
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How do you stay current with advances in cytogenetics?
- Answer: I regularly read scientific journals and attend conferences and workshops related to cytogenetics. I am a member of professional organizations such as the American Society of Human Genetics (ASHG) or the National Society of Genetic Counselors (NSGC). I also utilize online resources and continuing education opportunities.
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What are your problem-solving skills in a laboratory setting? Provide an example.
- Answer: [Candidate should describe a situation where they had to troubleshoot a problem in the lab, detailing their approach and the successful resolution. Examples might include equipment malfunction, unexpected results, or contamination issues.]
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Describe your experience working in a team environment.
- Answer: [Candidate should describe their teamwork experience, highlighting collaboration, communication, and conflict resolution skills. Mention specific examples from previous roles.]
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How do you handle stressful situations in a fast-paced laboratory environment?
- Answer: I remain calm under pressure, prioritize tasks effectively, and seek help when needed. I'm efficient in managing multiple tasks simultaneously while maintaining accuracy and attention to detail. I'm able to adapt to changing priorities and meet deadlines.
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What are your salary expectations?
- Answer: [Candidate should provide a salary range based on research of similar roles and their experience.]
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Why are you interested in this specific position?
- Answer: [Candidate should express genuine interest, mentioning specific aspects of the role or organization that attract them. This should show they've researched the opportunity.]
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What are your long-term career goals?
- Answer: [Candidate should outline their career aspirations, demonstrating ambition and aligning them with the potential growth opportunities within the organization.]
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What are your strengths and weaknesses?
- Answer: [Candidate should honestly assess their strengths and weaknesses, providing specific examples. Weaknesses should be presented with a plan for improvement.]
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Why should we hire you?
- Answer: I possess the technical skills and experience necessary to excel in this role, along with a strong work ethic, attention to detail, and a commitment to providing accurate and reliable results. I am a quick learner and a team player, eager to contribute to the success of your team.
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