from 4 to 360h flexible workload
valid certificate in your country
What will I learn?
The Cystic Fibrosis Mutations Course equips you with practical skills to interpret CFTR variants, choose appropriate testing strategies, and combine sweat chloride results with genetic information for accurate diagnosis. You will learn to use ACMG/AMP and ClinGen guidelines, access essential CFTR databases, evaluate family risks, explore reproductive choices, and prepare straightforward reports and counselling letters for challenging cases in children.
Elevify advantages
Develop skills
- Write clear and brief genetic reports for CF, including methods, results, and advice.
- Interpret CFTR variants using ACMG/ClinGen guidelines and evidence from databases.
- Develop diagnostic plans for CF that integrate sweat tests, genetic profiles, and clinical features.
- Select the best CFTR testing methods, such as panels, NGS, CNV detection, and functional tests.
- Provide counselling to CF families on risks, uncertain variants, and family planning options.
Suggested summary
Before starting, you can change the chapters and the workload. Choose which chapter to start with. Add or remove chapters. Increase or decrease the course workload.What our students say
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