flexible workload from 4 to 360h
valid certificate in your country
What will I learn?
This Cystic Fibrosis Mutations Course equips you with hands-on skills to analyse CFTR variants, pick the best testing approaches, and combine sweat chloride findings with genetic information for solid diagnoses. You will learn to use ACMG/AMP and ClinGen guidelines, access main CFTR databases, evaluate family risks, talk about family planning choices, and prepare straightforward reports and counselling letters for tricky cases in children.
Elevify advantages
Develop skills
- Prepare short CF genetic reports: straightforward methods, findings, and advice.
- Analyse CFTR variants using ACMG/ClinGen guidelines and database proof.
- Plan CF diagnosis steps mixing sweat tests, genotype, and symptoms.
- Select best CFTR tests: panels, NGS, CNV, and working assays.
- Advise CF families on risks, uncertain results, and family planning choices.
Suggested summary
Before starting, you can change the chapters and 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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