According to the number of inspection items and the level of the hospital, the charging standards are different. A gene sequencing reaction 300 yuan, a small health management package costs 5400 yuan. Monogenic genetic disease is one of the main causes of birth defects in newborns. It accounts for about 20% of the causes of infant death.

10% of children were hospitalized. At present, more than 7,000 single-gene genetic diseases have been found, and about 3,500 related pathogenic genes have been identified. Studies have shown that each person carries an average of 2.8 pathogenic mutations.

Extended data:

Genetic testing of genetic diseases is introduced as follows:

Gene detection of monogenic genetic diseases mainly adopts target enrichment and high-throughput sequencing technology, which can quickly, accurately and comprehensively detect the coding regions and shear sites of more than 2,500 genes related to more than 3,500 monogenic genetic diseases at one time, without single detection, which is helpful to avoid the birth of children with serious genetic diseases.

The content of single-gene genetic disease gene detection includes congenital malformation, endocrine and metabolic diseases, nervous system diseases, blood immune system diseases, ophthalmic diseases, circulatory system diseases, hereditary tumors, mental and behavioral disorders, skin diseases, hearing disorders and so on.

People's Network-Genetic Testing: Early Diagnosis of Children's Hereditary Diseases