Diagnostic procedures 1. telephone or on-site genetic counseling 2. register and take peripheral blood from patient and parents (can be mailed) 3. after the blood is taken, pregnancy can be conceived, and after pregnancy is confirmed, the laboratory is notified by telephone to Kong Xiangdong of the Genetic and Prenatal Diagnostic Center of the First Affiliated Hospital of Zhengzhou University 4. chorionic villus is taken at 10-13 weeks of pregnancy or fetal amniotic fluid is taken at 4 months 5. diagnostic results are taken 10 days after amniotic fluid is taken Genetic diagnostic methods Full gene sequencing, mutation Analysis Contact: Contact person: Kong Xiangdong, Wu Qinghua Tel: 0371-67966023;15037133988 (all office hours) Email: [email protected] Address: The First Affiliated Hospital of Zhengzhou University, Outpatient Clinic, 2nd Floor, Prenatal Diagnostic Center