LQB697 Cytogenomics

Unit Outline: Semester 2 2026, Gardens Point, Internal

Overview

This unit provides high-level training in human cytogenomics to provide clinical and research scientists with the knowledge and skills for the detection and clinical interpretation of germline and somatic chromosomal genomic disorders. This unit will provide a strong foundation applicable to diagnostic cytogenomic and research laboratories.

Learning Outcomes

On successful completion of this unit you will be able to:

1. Recall theoretical and practical concepts, and apply technical skills required for understanding the cytogenomic basis of disease and the diagnostic approach in clinical laboratories;
2. Solve complex problems in case-based cytogenomic contexts;
3. Apply professional and ethical knowledge appropriate for the cytogenomic contexts in the workplace and your studies at QUT;
4. Communicate your knowledge and learning in written and digital formats appropriate for a range of purposes and audiences.

Content

Learning Approaches

This unit introduces you to the foundation concepts of cytogenomics. You will have opportunities to apply your knowledge and skills through a practical approach. The unit comprises weekly online lectures, that are closely aligned with a series of laboratory classes and computer-based sessions. Laboratory classes are structured as a combination of practical experiments and workshop exercises designed to introduce you to a range of basic and advanced techniques used in clinical and research laboratories. The LQB697 Canvas site is used to provide resource material and regular unit update.

Feedback on Learning and Assessment

Feedback is provided through assessed reports and via the Canvas site. Informal feedback is provided weekly in practical classes by participating in, and completing learning activities with your peers and/or teaching staff. The online discussion board is a key place that you can ask for and receive feedback on your understanding of course materials and lecture content. You will also receive immediate feedback by completing any formative learning activities available to you on Canvas.

During and at the end of Semester you will have the opportunity to share your experiences and thoughts by providing your feedback on the teaching and content of this unit through online QUT student surveys. Your ideas and suggestions may be used to make changes to the unit where appropriate to improve the learning outcomes for you and future students.

Assessment

Overview

There are three summative assessment items in LQB697. Assessment 1 is a case study report using information attained during the practical sessions. In the report you will summarize the clinical features of the condition associated with a cytogenetic anomaly, explain the genetic basis of the condition, testing performed and additional testing and follow-up studies required. You will perform a literature review of the cytogenetic anomaly for clinical evaluation.  Assessment 2 comprises of a practical laboratory workbook and reflection that assesses your practical knowledge, technical and digital skills and understanding. Assessment 3 is a written theory examination, covering the semester's content consisting of a mixture of multiple choice, and short answer and more detailed long answer questions.

General Assessment Information

Due to the applied clinical laboratory nature of LQB697 and for you to meet the requirements of course accreditation, threshold assessment conditions apply to the grading in this unit. A minimum of 50% in both theory and practical assessment tasks is required to successfully complete this unit. If you fail either the practical or theory assessment components, and have meaningfully attempted all assessment tasks, and have obtained a result of 45-49% for the failed section, and your overall unit mark is greater than or equal to 50%, you have the opportunity to complete one additional assessment (designated by the unit coordinator); if you pass this, you will receive an overall grade of 4 for the unit. However, if you do not pass this additional assessment, you will not be eligible to pass the unit and will be awarded a maximum grade of 3. You are advised to seek feedback from the unit coordinator prior to undertaking the additional threshold assessment

Practical Class Attendance and Assessment

Participation in the practical classes is an integral part of your learning experience in LQB697, if you are unable to attend a practical session, you should inform the unit coordinator by email and provide supporting documentation for your absence the following week at the start of practical class, e.g. medical certificate. For approved absences alternate arrangements will be accommodated on up to two occasions. Approved absences in excess of two occasions will need to be discussed with the unit coordinator.

Unit Grading Scheme

7- point scale

Assessment Tasks

Assessment: Case study Report and literature review

You will prepare a case study report of a genetic condition within a real life clinical context.  You will be required to synthesize all of the information presented in the unit and interrogate the literature to summarize the clinical features of the condition and the significance of the chromosomal aberration detected. You will demonstrate practical and theoretical knowledge of cytogenomic concepts, interpretation and analysis. (Formative and summative).

This assignment is eligible for the 48-hour late submission period and assignment extensions.

Threshold Assessment:

Threshold conditions apply.  Students are required to obtain greater than or equal to 50% for the combined practical assessments (assessment 1 and assessment 2) and greater than or equal to 50% in the unit overall to pass

Assessment: Practical Workbook

You will collate the results of the case study/clinical investigation that you perform during the practical sessions. You will communicate your results, together with a written reflection on the technology used and clinical interpretation of the results, will be submitted at the completion of the practical sessions in weeks 5, 9 and 11.

Threshold Assessment:

Threshold conditions apply.  Students are required to obtain greater than or equal to 50% for the combined practical assessments (assessment 1 and assessment 2) and greater than or equal to 50% in the unit overall to pass

Assessment: Theory Examination

You will apply and demonstrate practical and theoretical knowledge of cytogenomics to ensure that you have a sound knowledge needed to work in this field. Assesses weeks 1-13 (summative). It will consist of multiple choice, short answer and long answer questions.

Threshold Assessment:

Threshold conditions apply.  Students need to obtain greater than or equal to 50% for the final exam and greater than or equal to 50% in the unit overall to pass.

Academic Integrity

Academic integrity is a commitment to undertaking academic work and assessment in a manner that is ethical, fair, honest, respectful and accountable.

The Academic Integrity Policy sets out the range of conduct that can be a failure to maintain the standards of academic integrity. This includes, cheating in exams, plagiarism, self-plagiarism, collusion and contract cheating. It also includes providing fraudulent or altered documentation in support of an academic concession application, for example an assignment extension or a deferred exam.

You are encouraged to make use of QUT’s learning support services, resources and tools to assure the academic integrity of your assessment. This includes the use of text matching software that may be available to assist with self-assessing your academic integrity as part of the assessment submission process.

Breaching QUT’s Academic Integrity Policy or engaging in conduct that may defeat or compromise the purpose of assessment can lead to a finding of student misconduct (Code of Conduct – Student) and result in the imposition of penalties under the Management of Student Misconduct Policy, ranging from a grade reduction to exclusion from QUT.

Requirements to Study

Costs

Cost of obtaining lab gown and safety glasses is the responsibility of the student.

Resources

Resource Materials

Prescribed text(s)

The recommended reference for this unit is:

Gardner, R.J.M,, Sutherland, G.R., & Shaffer, L.G. (2012). Chromosome abnormalities and genetic counselling (4th ed.). Oxford University Press. Available QUT Library eBook and 616.042.

An International System for Human Cytogenomic Nomenclature (2024). Karger, Basel Switzerland

Recommended text(s)

Additional helpful texts and resources for this unit include:
Gersen, S.L. (2011). The principles of clinical cytogenetics (3rd ed.). Springer Press. Available QUT Library eBook.

Heime, S. (2010). Cancer cytogenetics: chromosomal and molecular genetic aberrations of tumor cells (3rd ed.). Wiley. Available QUT Library eBook.

Pisano et al. (2007). FISH cytogenetics. Enfield. Available QUT Library eBook.

Risk Assessment Statement

This unit includes a laboratory component. In order that you become proficient in necessary practical skills, you will be trained in the handling of equipment, materials and specimens normally associated with this discipline. You are required to view a Health & Safety Induction video and complete an online health and safety quiz prior to being permitted into the laboratory, to access please follow this link Health & Safety Induction. A passing score of 10/10 is required and will be checked prior to entry to the first laboratory session. You may repeat the quiz until this score is achieved. You are also referred to the Faculty of Health's Health & Safety Web Site for further information.

If you have an underlying health condition you are encouraged to consult the lecturer in charge of the unit, as you may be required to take additional precautions on occasions.

Course Learning Outcomes

LS47 Bachelor of Medical Laboratory Science

1. Discipline Knowledge
   Relates to: ULO1, Practical Workbook, Theory Examination
2. Professional (including OHS and QA) Knowledge
   Relates to: Case study Report and literature review
3. Ethical knowledge
   Relates to: ULO3, Case study Report and literature review, Theory Examination
4. Technical proficiency
   Relates to: ULO1
5. Analysis and interpretation of data
   Relates to: ULO2, Case study Report and literature review
6. Synthesis, judgement, and explanation
   Relates to: ULO2, Case study Report and literature review, Practical Workbook, Theory Examination
7. Scientific communication skills including information literacy and numeracy
   Relates to: ULO4, Case study Report and literature review, Practical Workbook, Theory Examination
8. Interdisciplinary Communication
   Relates to: ULO4