CQUniversity Unit Profile.

This online assessment will examine your comprehension of the learning objectives and activities carried our from weeks 1 - 6 inclusive in the unit. It will  include any pre-tutorial/lectorial learning materials such as the weekly lecture notes and related resources, peer-reviewed articles and other relevant resources provided with the unit content and covered during scheduled classes. The assessment may include (but not be limited to) case studies, some short answer questions, terminology questions, process and arrangement questions. 

You will be provided with support and examples of the types of questions you are likely to encountered in this assessment during your scheduled classes; this will assist you in learning and understanding the expectations of this assessment. You are therefore strongly encouraged to regularly attend and actively participate in the weekly scheduled classes, ask questions where you are uncertain and ensure you come prepared for each class by having reviewed any pre-class learning material. If you still have questions or areas you do not understand following each weekly lectorial/tutorial class you will be encouraged to address these promptly by posting your questions on the Discussion forum and engaging in discussion on this/these topics with fellow students and academics, and the Unit coordinators. This is a timed assessment, once you begin the assessment, you will have 2 hours and 15 minutes to complete and submit it.

• Level of GenAI Allowed: Level 1 - No AI. You must not use AI at any point during the assessment. You must demonstrate core skills and knowledge.
• Please note that the 72-hour grace period does NOT apply to this assessment.

A detailed marking criteria and marks allocated for each questions will be provided with this assessment. Marks will range from 1-2 marks for short responses and 4-5 marks where more detailed information will be required. You will be provided with support and examples of the types of questions you are likely to encountered in this assessment during your scheduled classes; this will assist you in learning and understanding the expectations of this assessment. You are therefore strongly encouraged to regularly attend and actively participate in the weekly scheduled classes, ask questions where you are uncertain and ensure you come prepared for each class by having reviewed any pre-class learning material. If you still have questions or areas you do not understand following each weekly lectorial/tutorial class you will be encouraged to address these promptly by posting your questions on the Discussion forum and engaging in discussion on this/these topics with fellow students and academics, and the Unit coordinators. Doing this will ensure you 'arrive' to this assessment well prepared and give yourself the best possibilities of preforming well in and from this assessment.

Molecular testing, using genetic amplification, for disease detection has become commonplace in most pathology workplaces. Tests that used to take days can now be done in an hour or 2, making turn-around times shorter and clinical decision making easier. Understanding how and why these tests are done is vital for a Medical Laboratory Scientist. For this assessment you will be given a range of scenarios with different diseases and will be asked to design a molecular experiment to determine the status of the disease in a specific patient. Working in pairs you will research the disease and determine a specific genetic target to be tested. You and your student partner will then design a genetic amplification-based experiment, including describing specific primer sets, amplification conditions, reagents and equipment needed.  Individually, you will then outline what you expect to see in terms of results and interpret what this means for the patient. There are are 5 tasks associated with this assessment and are divided as follows: 

GROUP TASKS

1. Introduction to the Genetic Disorder
Provide a brief introduction to the selected disorder including its prevalence, the specific point mutation involved, and how this mutation alters protein function and contributes to the clinical features of the condition.

2. ARMS-PCR Principle
Describe how ARMS-PCR uses allele-specific primers to detect any point mutations. Explain how it identifies homozygous normal, heterozygous (carrier), and homozygous mutant individuals in a single reaction. Diagrams may be used for clarity.

3. Primer Design and PCR Setup
Use the given gene sequence for the genetic disease of your choice  design ARMS-PCR primers. You can use this site for primer design:  http://primer1.soton.ac.uk/primer1.html). List required equipment and outline PCR conditions and gel electrophoresis setup to visualize results.

INDIVIDUAL TASKS

4. Patient Result Interpretation
Based on the provided case (e.g., patient diagnosed with the selected disorder), describe the expected ARMS-PCR result, including expected band sizes and their interpretation.

5. Parental Testing Outcome
Assuming the patient's parents are asymptomatic, describe what ARMS-PCR results (band patterns) would be expected and explain what they indicate about carrier status.

• Level of GenAI Allowed:  Level 2 Planning. You may use AI for planning, idea development, and research. Your final submission should show how you have developed and refined these ideas. 
• 72 hours grace period applies to this assessment.                

You will be assessed on the following criteria:

• Identification of the molecular etiology of the disease.
• Appropriate design of molecular primers/probes to determine the presence or absence of disease.
• Accurate description of the experimental conditions for the genetic amplification test.
• Clear identification of the experimental outcomes.
• Appropriate use of referencing of scientific literature.

A detailed marking rubric will be available on the Moodle site for this unit

The residential school assessment for LMED29001 Genomic Pathology 1  includes the completion and submission of a Laboratory Workbook, which must be submitted on the final day of the residential school. This assessment will be graded on a PASS/FAIL basis, requiring an overall mark of at least 50% to pass. The three-day program consists of engaging, case study-based laboratory practicals, designed to give you hands-on experience that mirrors real-world diagnostic pathology practice. It is strongly recommended that you read and review the laboratory manual and workbook before attending the residential school.

• Level of GenAI use allowed: Level 1: You must not use Al at any point during the assessment. You must demonstrate your core skills and knowledge.
• Please note that the 72-hour grace period does NOT apply to this assessment.

Please bring the following items with you to the residential school for  LMED29001 Genomic Pathology

1. A printed copy of the LMED29001 Laboratory Manual
2. A printed copy of the Student Laboratory Workbook
3. A permanent fine-tip marker in your favourite colour
4. Pens, pencils, and a scientific calculator (a smartphone app is acceptable)

Dates: The residential Schools will be held  in

• Rockhampton (10/09/2026 to 11/09/2026) from 9:0 AM - 17:00 PM , and in
• Melbourne from 19/11/2026 to 20/11/2026  and 26/11/2026 to 27/11/2026 at the Deakin University, Burwood campus, Melbourne.

You will be assessed on the following criteria:

• completion of the experiments outlined in the laboratory manual
• an understanding and adherence to the safety protocols dealing with blood handling
• displaying sufficient understanding of the experimental techniques as assessed by answering workbook
  questions

Marks will be allocated within the Laboratory workbook for each section, and marking rubric will be available on the Moodle site for this unit.