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Genetic screening and detection of extended carriers of monogenic genetic diseases

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Product Introduction

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

Product Features

economical and accurate

Authoritative and efficient

convenient and flexible

Applicable people

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

Clinical significance

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.

Detection Process

sample collection

DNA extraction

library preparation

sequencing

Date analysis

report review and distribution

genetic counseling

Lead time

15 working days after receiving qualified samples.