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Diagnostic Cytogenetics

The practice of diagnostic cytogenetics is used for the investigation, diagnosis, monitoring and treatment of diseases linked to genetic disorders. This course focuses on chromosomal abnormalities that exist in syndromes such as down syndrome or trisomy 21, as well as malignancies associated with cancer.

About this course

Diagnostic Cytogenetics is an introduction to modern laboratory practices commonly used in hospital and private pathology laboratories in the investigation of diseases with a suspected genetic anomaly. The various techniques of karyotyping, FISH analysis, multiple ligation probe amplification, microarray, next genome sequencing (NGS) and whole genome sequencing (WGS) are introduced alongside techniques to interpret and report the results of the tests.

The use of case studies provides a way to synthesise knowledge about common genetic diseases, clinical features, screening, and diagnostic tests; and expected laboratory findings associated with those diseases in a pathology setting. Principles of biomedical ethics are introduced in the context of the provision of genetic services, particularly the role of prenatal screening, whole genome sequencing and the use of genetic councillors.

Course outline

More information on course content

Cytogenetics and molecular genetics are widely used in diagnostic laboratory medicine and are one of the fastest growing demand areas. To keep participants up-to-date with what employers need, this microcredential builds on the participant’s knowledge of basic molecular biology and genetics. The linking of theoretical concepts to case studies throughout the course encourages the reviewal of knowledge and how it relates to patient health.

In the first weeks of the course, the focus is on the basic techniques used in cytogenetics, such as types of staining and karyotyping. Participants access case studies to use their freshly gained knowledge to test their skills in sorting karyotypes for common numerical chromosomal abnormalities. This has a direct application to their final assessment.

The course then moves to the finer structural abnormalities such as deletions, duplications, inversions and insertions and how they can result in balanced rearrangements to the individual, or unbalanced rearrangements that may cause almost no outward symptoms, to the most serious cases of physically and mentally disabled patients. Participants are required to research and collect data from recommended reading materials to investigate for themselves the varied outcomes on the individuals effected.

In the second half of the course, the focus shifts to clinical cytogenetics (moving away from using the karyotype alone) and incorporating the use of molecular cytogenetic techniques such as fluorescence in situ hybridisation (FISH) analysis, multiplex ligation probe amplification (MLPA), microarrays and sequencing. In a clinical setting, this allows for the identification of genetic changes at the gene level and lower, down to single nucleotide polymorphisms. These technologies now have many applications, particularly in haematology and oncology, as well as antenatal testing.

With this information, participants will be able to look at clinical cytogenetic results and clinical histories for a patient and build pedigree that tracks the abnormality through generations. They can then provide information on a clinical course for monitoring or potentially treating a disease. Participants will demonstrate this in their final assessment, where through their interpretation of the results, they build a pedigree in the style of a medical report and create an informative brochure that can be given to patients or their families to understand the chromosomal or genetic abnormality. This meets the need for participants to be able to communicate with other clinical professionals, as well as be able to describe the condition in lay terms to patients.

Key benefits of this microcredential

This course will allow you to:

  • Develop an understanding of the role of cytogenetics in the broader pathology community and how its application is used diagnostically
  • Learn interpretive skills needed for a role within a diagnostic cytogenetics laboratory setting.

This microcredential aligns with the 2-credit point subject, Diagnostic Cytogenetics (60004) in one of the following postgraduate offerings: Master of Science (C04241) or Master of Medical Biotechnology (C04390). This microcredential may qualify for recognition of prior learning at this and other institutions.

Who is this course for?

This course is suitable for graduates with a passion for diagnostic pathology or genetics who wish to gain skills relevant to the laboratory. This course may also be of interest to health professionals or current laboratory scientists who are working in pathology, who wish to gain a deeper understanding of the wider uses of cytogenetics and its role in disease classification, treatment and monitoring.

Course information

Course learning objectives

  • Disciplinary knowledge
  • Professional, ethical, and social responsibility.


This course incorporates two assessment tasks.

Assessment 1: Module quizzes (60%).

At the end of each module, there will be an online quiz worth 10% of the final grade. These quizzes will be a combination of MCQ's and interactive content.

Assessment 2: Disease portfolio (40%)

Participants will be given a cytogenetic abnormality to investigate, as well as case history.  Using the case history and independent research, the participants will develop:

  • A cytogenetics medical report based on the clinical findings, and
  • A patient focused informative brochure based on the genetic disorder.

Teaching and learning objectives

This course will be delivered online through the Canvas learning management system (access will be provided) via six learning modules. The modules will comprise theory content and its application, using case studies. Modules will include self-directed learning activities with interactive content, to reinforce learning objectives such as online karyotyping and pedigree creation.

Each module will include an industry-led 1.5 hour online collaborative workshop, where participants review case studies and work through challenging topics. Interactive discussion boards will be available for prompt feedback between workshops.

Enrolment requirements

Completion of all assessments tasks, and an overall mark of 50% (pass) or above.

Mandatory requirements

There are no mandatory requirements prior to enrolling in this microcredential, though a background in health or science is recommended.

Participant requirements and equipment

Participants will require access to a computer and the internet.


Full price: $1680 (GST free)

Discount codes are available for the following:

  • 10% discount for UTS alumni and UTS staff

If you are eligible for any of the discounts above, you will need to obtain a discount code BEFORE you sign up to this course.

Please email with your UTS staff or UTS alumni number. Once verified, you will be supplied with a voucher code to apply to your cart.

Please note that discounts cannot be combined. A limit of one discount applies per person per course session.



22 February




6 wks

Lead Academic

Rebecca Keppel

Rebecca Keppel
Associate Lecturer

Rebecca’s passion is pathology and haematological malignancies. She is a UTS alumni with a Master’s Degree in Science (Medical Biotechnology). Rebecca works at UTS as an associate lecturer and at NSW Health Pathology as a hospital scientist. Her laboratory work involves the diagnosis of haematological disorders, which cytogenetics plays and important role in.

In 2016, Rebecca led the Haematology Teaching Team to a UTS Teaching and Learning award. She is enthusiastic about real world teaching using a case study approach and ensuring graduates are work-ready with the practical skills they need to succeed.  

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Tamara Carrodus

Tamara Carrodus
Associate Lecturer

Tamara Carrodus has a Bachelor of Biomedical Science from UTS. She has taught Diagnostic Cytogenetics, part of the UTS suite of haematology subjects, for five years.

Tamara's interest in cytogenetics began when she worked as a disability support worker, working with children in respite, providing fun activities while giving their parents a well-needed break. While working with the kids, Tamara could see that there were distinct similarities amongst the various syndromes the kids were affected by. Years later when completing her degree, she was able to see how these traits came about through the genetic changes that resulted in translational and transcriptional products, resulting in the downstream effect of particular traits.

Tamara is about to embark on a Master in Genetic Counselling degree to further her understanding in this area. 

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Book a session

Mon 22 Feb 2021 -
Fri 02 Apr 2021
Expert: Rebecca Keppel, Tamara Carrodus
  • Online
  • Online
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