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CapitalBio Technology Co., Ltd. (abbreviated "CapitalBio") is the industrialization platform of the CapitalBio Corporation and the Beijing National Engineering Research Center for Biochips.

Human Mitochondrial Genome Detection Mitochondrial diseases refer to a group of multi-system diseases caused by dysfunction of mitochondrial respiratory chain leading to ATP synthesis disorder, can affect muscles, central nervous system, kidneys, cardiovascular, eye, ear, digestive, endocrine, cardiovascular and renal systems individually or simultaneously. It can occur in any part of the body or at any age, the incidence is about 1/8500. For this test, CapitalBio use two long-segment PCR amplification and high-throughput sequencing technologies to analyze the full length of the entire mitochondrial gene (16569bp), the latest Cambridge version of the mitochondrial genome NC_012920 was used as a reference for comparison and analysis.

Trisomy 21 (Down syndrome), trisomy 18 (Edward's syndrome), and trisomy 13 (Patau's syndrome) are the three most prevalent autosomal aneuploid diseases. The incidence in newborns is 1/(600-800), 1/(3500-8000), and 1/(7000-20000). Intellectual disability, developmental delay, multiple deformities, reproductive disorders, etc. are common in children. Using a fetal chromosome aneuploidy (T21, T18, T13) detection kit (semiconductor sequencing), doctors can reliably identify these conditions in unborn children (trisomy 21, trisomy 18, and trisomy 13).

Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection IVD Medical Device | Capitalbio