T/CRHA 116-2024 Guidelines for Clinical Practice on Screening for Deafness Genes

Scope

Scope: This document outlines the purpose of deafness gene screening, the screening targets and recommended timing, the selection of screening loci, technical methods and the selection of screening samples, quality control and information management in screening laboratories, screening results, and clinical practice guidelines for genetic counseling; Main technical content: The overall structure of this document is as follows: 1. Scope; 2. Normative reference documents; 3. Terms and definitions; 4. Purpose of deafness gene screening; 5. Deafness gene screening targets and recommended timing; 6. Selection of deafness gene screening loci; 7. Techniques for hereditary deafness gene screening and selection of screening samples; 8. Quality control and information management in deafness gene screening laboratories; 9. Deafness gene screening results; 10. Deafness gene screening reports; 11. Genetic counseling based on screening results; 12. Other matters needing attention. This document is applicable to hospitals, third-party medical testing institutions, or university diagnostic laboratories with clinical prenatal genetic diagnosis qualifications, as well as relevant personnel engaged in deafness prevention and treatment work in departments of otorhinolaryngology, medical genetics, maternal and child health care hospitals, gene screening and diagnosis laboratories, and prenatal diagnosis institutions, for the application of hereditary deafness gene screening.

Development Information

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