Microdeletion duplication syndrome is a genetic disease with complex clinical manifestations caused by chromosomal aberration which is difficult to be found by traditional cytogenetic analysis. It is one of the important causes of congenital defects. There are 300 common chromosomal microdeletions / micro duplication syndromes, which can lead to abnormal growth and development, mental retardation, facial features and other symptoms, which seriously harm the health of patients and bring great burden to the society and family.

Product introduction

Chromosome deletion and duplication of non-invasive prenatal genetic testing based on a new generation of high-throughput gene sequencing, only 10ml from peripheral blood of pregnant women, analysis methods and data management software for bioinformatics analysis by the experimental technology innovation and has all the intellectual property rights, accurate detection of chromosome 23 aneuploidy, > 1Mb deletion and duplication is abnormal, aneuploidy non invasive prenatal genetic testing the best supplement.

Intended for

- pregnant women may choose detection, especially older women (aged 35)

Prenatal screening, such as serological screening, and imaging tests showing high risk of pregnant women

- pregnant women with a history of childbirth, teratography, stillbirth or stillbirth with a child with a chromosome disease

- pregnant women who have been exposed to congenital defects in the fetus in the early pregnancy

The couple has a history of teratogenic contact

• pregnant women who do not accept invasive prenatal diagnosis and invasive prenatal diagnosis failure

Technical advantage

1. only to extract the peripheral blood of the 10ml mother

2. the 23 pairs of chromosomal aneuploidy and as many as hundreds of common chromosomal microdeletion microduplication syndrome were detected in one time

3. the microdeletion of chromosome microdeletion above 1Mb can be detected

4. the detection of chromosomal microdeletion / microduplication and the interpretation of the four major international mainstream chromosome abnormality database (Decipher/ISCA/OMIM/Clinvar)