How do scientists make a genetic diagnosis?
In the world of rare diseases, navigating the diagnostic journey can often feel like a complex puzzle.
With 72% of rare diseases being genetic in nature, obtaining an accurate diagnosis is crucial for patients and their families.
However, the landscape of genetic testing and diagnosis can be daunting, filled with new terminology and processes.
This course aims to give patient organisations a better understanding of how scientists make a genetic diagnosis by exploring DNA sequencing for genetic testing, such as Sanger Sequencing and Next-Generation Sequencing, and Chromosomal testing, such as karyotyping, fluorescence in situ hybridisation (FISH) and Chromosomal microarray.
Before you start this course, we highly recommend first completing the courses ‘Introduction to Genetics’ and ‘How Does Genetic Variation Lead to a Rare Disease?’ on the Resources Hub.
This will help you to gain the background knowledge needed to fully understand the topics discussed in this course.
With thanks to:
With thanks to the Funders of The Empowerment Programme 2024
Resource type
Course
Skill level
Beginner
Duration
Est. 90 minutes
Last updated
June 2024
Resource type
Course
Skill level
Beginner
Duration
Est. 90 minutes
Last updated
June 2024
What will you learn in this course?
- DNA sequencing for genetic testing, such as Sanger Sequencing and Next-Generation Sequencing.
- Chromosomal testing, such as karyotyping, fluorescence in situ hybridisation (FISH) and Chromosomal microarray.
- The uncertainty in genetic testing
Who is this course for?
This course is designed for all patient organisations, patients and rare stakeholders who want to gain a basic understanding of genetics.
Once the basics of genetics are understood, patient groups, patients and rare stakeholders can better comprehend what diagnostics, advanced therapies and inclusive communications around genetics mean to them and their community.
Suggested pre-reading
Before you start this course, we highly recommend first completing the courses ‘Introduction to Genetics’ and ‘How Does Genetic Variation Lead to a Rare Disease?’ on the Resources Hub.
This will help you to gain the background knowledge needed to fully understand the topics discussed in this course.
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