Use of a clinical genetic screening assay that minimizes rescues
By combining a salvage-minimum approach with NGS and Sanger sequencing, high-risk regions were identified and confirmed, solving the problem of false-negative variant interpretation in clinical genetic screening and achieving efficient resource utilization and improved variant interpretation accuracy.
CN122249861APending Publication Date: 2026-06-19LABORATORY CORPORATION OF AMERICA HOLDINGS INC
Patent Information
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- LABORATORY CORPORATION OF AMERICA HOLDINGS INC
- Filing Date
- 2024-11-04
- Publication Date
- 2026-06-19
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Figure CN122249861A_ABST
Abstract
This disclosure relates to a clinical genetic screening assay that designates a subset of high-risk regions within a next-generation sequencing (NGS) sample for confirmatory testing. Specifically, aspects involve obtaining (i) region of interest (ROI) and associated variant data, (ii) population allele frequency information, and (iii) a sensitivity profile; performing NGS on a sample obtained from a subject to obtain NGS reads of the ROI; implementing a salvage minimization protocol to designate a subset of the ROI for Sanger resequencing; and performing Sanger resequencing on the subset of the ROI. The NGS reads and Sanger resequencing data are used to generate accurate variant interpretations and / or diagnoses for the subject.
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