Assessing and Resolving Findings of Sex Chromosome Discordance in Genetic Testing
Using X and Y chromosome data as a QC metric can identify critical errors but also introduces limitations and bias. Improved standardization, inclusive practices, and alternative QC methods are necessary to ensure accuracy and equitable patient care. Collaborative efforts are required to address demographic complexities and reduce testing delays.
Authors
- Heather C. Flynn Gilmer
- Molly Nelson-Holte
- Kyle Salsbery (ORCID: https://orcid.org/0009-0008-8775-8960)
- Zhiyv Niu (ORCID: https://orcid.org/0000-0001-6068-5505)
- Lauren A. Choate (ORCID: https://orcid.org/0000-0003-4246-0550)
- Anna Essendrup
Institutions
- Brigham and Women's Hospital (US)
- Mayo Clinic (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- The Journal of Applied Laboratory Medicine
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1093/jalm/jfaf167
- Citations
- 1
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 1.82