The price of sequencing analysis in children with congenital hyperinsulinemia

  What is the approximate cost of the current sequencing analysis of the causative gene in children with congenital hyperinsulinemia? This is a question that many parents are concerned about.  With the development of molecular biology and the widespread use of second-generation sequencing technology in clinical practice, the cost of detecting the relevant pathogenic genes has been greatly reduced.  Currently, the cost of testing for the relevant causative genes in children with congenital hyperinsulinemia is about RMB 5,000 per person using second-generation sequencing technology.  If a mutation in a disease-causing gene is found in a child, the parents are then sequenced and analyzed for the relevant mutation site (at a cost of about $300 per person) to help determine the mode of inheritance of the disease-causing gene in the child.  It takes about 1-3 months from the time the family blood specimen is collected to the time the final sequencing results are available.