1.Consensus on the application of clinical whole genome sequencing in the diagnosis of genetic diseases.
Society of Medical Geneticists, Chinese Medical Doctor Association ; Subspecialty Group of Endocrindogic, Hereditary and Metabolic Diseases, the Society of Pedratrics, Chinese Medical Association ; Clinical Genetics Group, Adolescent Medicine Committee, Chinese Medical Doctor Association ; Molecular Diagnosis Society, Shanghai Medical Association
Chinese Journal of Pediatrics 2019;57(6):419-423
2.Expert consensus on the genetic diagnosis for Dystrophinopathies.
Guiyu LOU ; Qiaofang HOU ; Na QI ; Yongguo YU ; Shixiu LIAO
Chinese Journal of Medical Genetics 2023;40(8):909-914
Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans
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Quality of Life
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Consensus
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Dystrophin/genetics*
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Muscular Dystrophy, Duchenne/therapy*
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Cardiomyopathy, Dilated/genetics*
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Electrocardiography
Result Analysis
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