Home - Reproductive Genetics - Professional Edition - Carrier Screening for Monogenic Inherited Diseases (442 diseases, CSKB)
Aimed to provides more comprehensive primary prevention and control of birth defects. Carrier Screening-Plus has covered 442 monogenic diseases in 13 major clinical diagnostics fields through broadening testing scope.
Detect 442 autosomal recessive diseases and X-linked recessive diseases in 13 major systems at one time, by covering 410 exons of pathogenic genes.
For pseudogenes with highly similar sequences and no function, specific bioinformatics tools will be used to screen out pathogenic gene mutations, such as gene GBA of Gaucher disease and gene HBA1/ HBA2 of α-thalassemia.
The comprehensive use of multiple experimental methods and bioinformatic algorithm can ensure that the detection rate of all gene mutations>98%.
For the couples carrying same pathogenic gene, the pregnant women will be offered a prenatal diagnosis for free, and non-pregnant women are normally recommended to take PGD to block monogenic diseases.
1 Couples with abnormal chromosomes
2 Sperm/egg donors
3 Couples who need assisted reproductive technology to achieve eugenics
4 Couples who have a child inheriting a monogenic disease or have familial genetic diseases
5 Couples with abnormal reproductive history (recurrent miscarriage, repeated failure of IVF implantation, early abortion)
6 Women who are concerned about recessive inherited diseases during pregnancy (gestational week <8, both fetal bud and fetal heart developmental level should meet the gestational week)
Global