What are genetic diseases? Genetic diseases are diseases caused by changes in genetic material, often congenital or acquired. Sometimes the onset of the disease is completely determined by genetic factors, such as congenital stupidity, polydactyly, congenital deafness, hemophilia, etc. Sometimes it takes the combined effect of genetic factors and environmental factors to develop, such as asthma, gastric and duodenal ulcers and so on. Genetic diseases cannot be diagnosed by clinical manifestations alone and must be diagnosed with the help of advanced genetic diagnostic techniques. What are Inherited Metabolic Diseases? Inherited metabolic diseases, also known as inborn metabolic defects, are a group of diseases in which mutations in the genes coding for certain enzymes, transport proteins, membranes, or receptors involved in metabolism in the body lead to disorders of biochemical metabolism in the body, resulting in the accumulation of intermediary or bypassed metabolites or a lack of end metabolites, causing a series of clinical symptoms. Clinical diagnosis is difficult, and chromatography or mass spectrometry must be used to screen and diagnose genetic metabolic diseases. Currently, it is possible to diagnose dozens of inherited metabolic diseases with a single test. What are the symptoms that should be considered when a child develops an inherited disease? When a child has mental retardation, backward growth, low or high muscle tone, abnormal appearance, deformed features, family history, or unexplained diseases, genetic diseases should be suspected and a specialist should be consulted in time. Why do I need to be tested for hereditary diseases? Pre-pregnancy and prenatal diagnosis of genetic diseases can reduce the birth of children with genetic diseases, reduce the burden on the family and society, and is of great significance to eugenics; newborn screening and diagnosis of genetic diseases is of great significance to early diagnosis of the disease and the correct treatment and prevention of the disease, and can avoid and reduce the occurrence of children with disabilities.