P666: Analytical validation of a clinical whole genome sequencing test as a LDT: Lessons learned under CAP and NYSDoH compliance
Abstract
Regulatory Agencies are increasingly focused on Laboratory Developed Tests (LDTs), making the development of robust LDT from a scientific and regulatory perspective for genetic testing a norm for clinical laboratories. The TruGenome Undiagnosed Disease Test is a clinical genome sequencing (GS) LDT for patients with suspected genetic disease offered by Illumina Laboratory Services (ILS) and accredited by CAP and NYSDoH. We will share our approach to designing analytical validation studies and navigating regulatory submission pathways for this LDT, highlighting key strategies and lessons learned throughout the process.
Fields of Study & Subjects
Genomics and Rare Diseases
Clinical Laboratory Practices and Quality Control
Biomedical Ethics and Regulation
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104156–104156
- Publication date
- 1 January 2026
- Language
- EN