Reproductive genetic testing project

Subdivision categories	Entry name	Methodology	Detection content	Detection significance
Deaf	Genetic deafness Genetic testing (20 loci)	Nucleic acid mass spectrometry	20 loci of 4 deafness genes (GJB2/GJB3/PDS/mtDNA) associated with hereditary deafness	Screening the carrier status of deafness pathogenic genes in both spouses, providing prenatal and prenatal guidance (pre implantation screening/diagnosis) based on the screening results, combined with physical hearing screening methods, to improve the detection rate of hearing impairment in newborns. Early intervention, treatment, and guidance based on the cause of hearing impairment in newborns to clarify the cause and predict the therapeutic effect.
Favism	Genetic screening of favism	Nucleic acid mass spectrometry	14 common G6PD gene mutation sites in the Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.871G>A, c.1024C>T, c.392G>T, c.487G>A, c.517T>C, c.592C>T, c.1004C>A, c.383T>C, c.1360C>T, c.493A>G, c.1387C>T).	Through neonatal G6PD screening, early detection of G6PD deficiency in children can prevent hyperbilirubinemia and acute hemolytic anemia induced by factors such as food, medication, and infection.
Ankylosing spondylitis	Detection of Human leukocyte antigen HLA-B27 Genetic testing	Fluorescence PCR method	HLA-B27 allele Genetic testing	Auxiliary diagnosis of Ankylosing spondylitis with suspected symptoms
Spinal Muscular Atrophy	Genetic testing of human spinal muscular atrophy (SMA)	Fluorescence PCR method	SMA gene copy number detection	Supplementary diagnosis for suspected symptoms of spinal muscular atrophy
Neuromuscular disease	Genetic testing of Hereditary Diseases of the Nervous Muscular system	NGS	It covers 1314 genetic diseases and 1004 genes in the neuro Muscular system, including muscular dystrophy, peroneal muscular atrophy, hereditary spastic paraplegia, etc.	Provide fertility guidance for couples with a family history or who have given birth to a child; Conduct risk assessment for high-risk individuals with a family history, provide early intervention plans, and reduce disease risk.
Epilepsy	Detection of epilepsy related Genetic testing	NGS	Covering 498 genetic diseases and 452 genes related to epilepsy, including early infantile epileptic encephalopathy and benign familial neonatal epilepsy.	Provide fertility guidance for couples with a family history or who have given birth to a child; Conduct risk assessment for high-risk individuals with a family history, provide early intervention plans, and reduce disease risk.
Duchenne/Becker muscular dystrophy	Genetic testing of Duchenne Becker muscular dystrophy (DMD/BMD)	NGS	DMD gene Exon Coding region and Intron pathogenic mutation, small insertion deletion (<20bp), Exon duplication, Exon deletion.	DMD/BMD patients or suspected patients, search for the cause and assist in clinical diagnosis; Excluding populations at risk of DMD/BMD.
Mitochondrial disease	Detection of human Mitochondrial genome	NGS	Point mutation, small deletion insertion mutation (<20bp) in Mitochondrial genome, excluding mitochondrial rearrangement, large deletion and duplication.	For patients suspected of mitochondrial disease, search for the cause and assist in clinical diagnosis; A population with typical maternal genetic characteristics and complex clinical phenotypes that cannot determine the disease should undergo differential diagnosis.
Neonatal genetic diseases	Genetic screening for common genetic diseases in newborns	NGS	Detect over 800 single gene genetic diseases in 13 major systems.	Early screening of deformities, potential illnesses, or intellectual problems in children can minimize the risk and achieve the goal of early detection and treatment.
Maternal and Child Health	Combined Genetic testing of folic acid, thrombophilia and preeclampsia	Nucleic acid mass spectrometry	Screening for a total of 13 loci in 9 genes related to folic acid metabolism, hereditary thrombophilia, and preeclampsia.	1.Guide precise supplementation of folic acid to prevent birth defects in newborns,as well as premature delivery,habitual miscarriage,gestational hypertension,preeclampsia,and megaloblastic anemia in pregnant women; 2.Risk assessment of gestational thromboembolism and prevention of hereditary thrombophilia during pregnancy and postpartum; 3.Understand the genetic risk of Gestational hypertension and prevent the occurrence of pregnancy induced hypertension.
Maternal and Child Health	Non invasive prenatal Genetic testing (NIPT) of fetal chromosome Aneuploidy	NGS	Detection of Aneuploidy of fetal chromosome 13/18/21	At 12-22+6 weeks of pregnancy, detecting fetal free DNA in maternal peripheral blood can assess whether the fetus has trisomy 21 syndrome (Down syndrome) 18 trisomy syndrome (Edward's syndrome), 13 trisomy syndrome (fear of Dow's syndrome).
Maternal and Child Health	Non invasive prenatal Genetic testing of fetal chromosome Aneuploidy Plus2.0 (NIPT-Plus2.0)	NGS	The microdeletions and microduplications of Aneuploidy+4 sex chromosomes+116 chromosomes on chromosome 13/18/21 of the fetus were detected.	Assist in diagnosing chromosomal and genomic diseases caused by chromosomal abnormalities in prenatal samples, and guide eugenics and fertility.
Child development	Genetic testing of vitamin D and calcium utilization ability in children	Nucleic acid mass spectrometry	Detect 1 locus of GC gene related to vitamin D metabolism, 5 loci of VDR and LRP5 genes related to calcium absorption metabolism.	Guiding children to supplement sufficient amounts of vitamin D and calcium is of great significance for the accumulation of bone mass in adolescence and the prevention of osteoporosis and fractures in adulthood.
Genetic disease	Genetic testing of individual whole Exon group	NGS	The Coding region of Exon covering all human genes can detect single base mutations and small insertion deletion mutations, excluding Exon deletion duplication, dynamic mutation and Chromosomal translocation detection.	Research on genetic mechanisms or pathogenic mutations of diseases: testing patients with suspected monogenic genetic diseases to comprehensively explore the pathogenic mechanisms at the genetic level; Auxiliary diagnosis: patients with familial tendency, but other Genetic testing failed to confirm the diagnosis.
Genetic disease	Clinical full Exon Genetic testing	NGS	Covering 14 disease systems, 4269 genetic diseases, and 3877 genes.	1.Auxiliary diagnosis:Conduct etiological analysis on patients with inherited features but whose clinical manifestations have not yet been determined as a single gene disease;Testing patients with suspected monogenic genetic diseases to assist in clinical diagnosis at the genetic level;Provide correct guidance for subsequent treatment interventions due to strong heterogeneity; 2.Fertility guidance:Provide fertility guidance for couples with a family history or who have given birth to a child; 3.Disease risk assessment:Conduct risk assessment on high-risk individuals with a family history,provide early intervention plans,and reduce disease risk.
Genetic disease	Enhanced whole Exon Genetic testing (WES+CNV seq)	NGS	The whole Exon Coding region of all human genes+CNV greater than 100Kb, 23 pairs of chromosome Aneuploidy.	Clarify the genetic mechanism or pathogenic mutation research of the disease, and identify large, medium, and small variants. Auxiliary diagnosis: For patients with unknown etiology and familial genetic predisposition, assist in clinical diagnosis.