Testing for Deletions and Duplications
Speaker:
Diane Allingham-Hawkins, PhD, FCCMG, FACMG
Contact Hours:
1.0
Date:
May 28, 2025 - May 31, 2027
Description:
This webinar outlines the most commonly used methods for detection of single or multi-exon deletions and duplications including a discussion of the benefits and limitations of each method. Case examples are used to illustrate the importance of testing for deletions and duplications with an emphasis on clinical validity and clinical utility.
Learning Objectives:
- Explain the importance of testing for deletions and duplications in patients with genetic diseases.
- Discuss several different methods of testing for deletions and duplications.
- Describe the benefits and limitations of each method as they relate to clinical validity and clinical utility.