P333: Rapid exome/genome sequencing in acute pediatric settings influences acute and long-term management of patients and their families
Rapid Exome/Genome Sequencing Service was launched by National Health Service England on 1st October 2019 for acutely unwell babies and children with a likely monogenic disorder. The service was provided by the Exeter Genomic laboratory under R14 category as per the National Genomic Test Directory. We present a clinical audit data of five years of the service from one regional clinical genetics center (West Midlands Clinical Genetics Centre) In England.
Authors
- Karen Stals (ORCID: https://orcid.org/0000-0002-3255-7044)
- Lorraine Hartles-Spencer
- Swati Naik (ORCID: https://orcid.org/0000-0001-9979-7360)
- Andrew Parrish (ORCID: https://orcid.org/0009-0007-4527-2834)
- Ramanand Jeeneea
- Madhura Chandrashekara
Institutions
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Wessex Regional Genetics Laboratory (GB)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102298
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00