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 ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

Child ; Consensus ; Haemophilus Infections ; diagnosis ; therapy ; Haemophilus influenzae ; Humans ; Infant

Child ; Consensus ; Flow Cytometry ; methods ; Humans ; Lymphocyte Count ; Lymphocyte Subsets ; Practice Guidelines as Topic ; T-Lymphocyte Subsets

Child ; Consensus ; Disease Management ; Disorders of Sex Development ; diagnosis ; therapy ; Gonadal Steroid Hormones ; administration & dosage ; therapeutic use ; Humans ; Practice Guidelines as Topic ; Risk Factors

Consensus ; Humans ; Nutritional Requirements ; Phenylalanine ; blood ; Phenylalanine Hydroxylase ; deficiency ; Phenylketonurias ; diagnosis ; diet therapy ; genetics ; Practice Guidelines as Topic