The Expanded Carrier Screening Test for Monogenic Genetic Diseases detects genetic loci in both parents during the preconception or early pregnancy period. It identifies carriers of pathogenic variants for genetic diseases among couples with normal phenotypes and predicts the potential risk of having children with genetic diseases
economical and accurate
Authoritative and efficient
convenient and flexible
All childbearing-age couples planning to have children
Couples in early pregnancy (≤12 weeks)
Couples with a history of adverse pregnancy outcomes
Couples seeking to have healthy babies through assisted reproductive technology
Childbearing-age couples with close blood relations
Conducting carrier screening during the preconception period or early pregnancy, and taking preventive measures for birth defects in advance, combined with genetic counseling, prenatal diagnosis, assisted reproductive technology and other measures, can effectively prevent the initial occurrence of severe recessive genetic diseases.
sample collection
DNA extraction
library preparation
sequencing
Date analysis
report review and distribution
genetic counseling
15 working days after receiving qualified samples.