Solutions for Maternal and Child Healthcare IVD Medical Device

Types Of Solutions for Maternal and Child Healthcare

Preimplantation Embryo Genetic Screening (PGS)

PGS is an early prenatal screening method that detects and analyzes abnormalities in the number of chromosomes and structure of early embryos before implantation.

Drug-Related Deafnss Gene Mutations Detection

The Drug-Related Deafness Gene Mutations Detection service focuses on detecting drug-induced deafness genes.

100 Loci of 18 Deafness-Related Genes Detection

Using next-generation sequencing technology, it can test 100 loci in 18 deafness-related genes in humans to determine if there are mutation sites in the deafness gene.

Hereditary Deafness Gene Detection (227 Genes+Mitochondrial Genome)

Using next-generation sequencing technology, 227 deafness-related genes and the entire mitochondrial genome sequence are identified to provide precise guidance for molecular disease diagnosis.

Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection

As a prenatal screening test, NIPT can determine whether or not a fetus has a chromosomal disorder.

Fetal Chromosomal Aneuploidy and Microdeletions/ Microduplications Detection (NIPT-Plus)

NIPT-Plus, an upgraded version of NIPT, can increase birth defect detection from 4% to 34%. It can also detect abnormal trisomy 21, 18 and 13, as well as chromosome micro-deletions and micro-duplicates.

CNV-seq Detection (Semiconductor Sequencing)

CNV-Seq technology is capable of analyzing peripheral blood, stream products, fetal tissues, and prenatal diagnostic samples.

Karyotype Analysis

Karyotyping can be used to investigate cytogenetic classification, interspecies relationships, chromosome number and structural variation.

CMA Detection

CMA (Chromosomal Microarray Analysis) is a high-resolution, high-throughput molecular karyotyping technique for detecting copy number variation in human genomic DNA.

Folic Acid Utilization Ability Genetic Detection

The genetic testing for folic acid utilization can understand the body's ability to utilize folic acid from the gene level, and to realize the personalized supplementation of folic acid, thereby preventing occurrence of disease.

Y Chromosome Microdeletion Gene Detection

The spermatogenesis disorders caused by genetic factors such as chromosomal abnormalities and gene mutations account for more than 30%, of which the Y chromosome microdeletion is the second largest genetic factor leading to male infertility.

Tandem Mass Spectrometry Screening for Genetic Metabolic Diseases

Tandem Mass Spectrometry (MS/MS) is a powerful technique for the analysis of complex mixtures such as body fluids, cell lysates or biopsies.

DMD (Duchenne muscular dystrophy)/ BMD (Baker muscular dystrophy) Genetic Detection

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are neuromuscular disorders that primarily affect boys due to an X-linked mutation in the DMD gene, resulting in reduced to near absence of dystrophin or expression of truncated forms of dystrophin.

17 Common Single-gene Disorders

17 common single-gene disorders panel of CapitalBio use NGS combined with multi-method platform to detect common recessive genetic disease, multiple variant types are detected at one time.

Neuromuscular Disorders

There are 1,314 genetic diseases included in this test, which can be divided into 5 categories: peripheral neuropathy, muscular dystrophy, myopathy, muscular neuropathy, muscular neuropathy, systemic neuropathy.

Epilepsy-related Gene Detection

The Epilepsy-related gene testing of CapitalBio Technology is based on BES4000 semi-conductor sequencing platform, using target region capture and NGS technology together to detect the genes related epilepsy.

GJB2 Gene Coding Region and Splicing Site Detection

This test is based on NGS technology, can provide information as if the subject carrying GJB2 gene related deafness mutations.

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, it can occur in any part of the body or at any age, the incidence is about 1/8500.

Clinical WES

The Clinical WES test of CapitalBio Technology is based on the BES4000 semiconductor sequencing platform, uses target region capture and the NGS technology to detect nearly 4,000 genes that are clearly associated with genetic diseases, covering more than 4,200 diseases.

Individual WES

Cover 180,000+ exon regions of 20,000+ human genes, comprehensively interpret all single-gene disorders with clear pathogenic genes in the OMIM database, and can search for new pathogenic genes with trio-WES method.

WES+CNV-seq

Combination of individual WES + CNV-seq, detect single-gene disorders and chromosomal diseases.

Advanced Technology of CapitalBio Maternal and Childcare

Nine Deafness Gene Mutations Detection

This gene mutation test can detect the nine most common mutations causing hearing loss.

Fifteen Deafness Gene Mutations Detection

The Fifteen Deafness Gene Mutations Detection is a totally genetic test for the fifteen most common mutations in the Deafness gene.

Twenty-three Deafness Gene Mutations Detection

Twenty-three Deafness Gene Mutations Detection Kit is based on PCR technology which can detect the mutations of 23 major genes subunits on human chromosomes.

Thalassemia Gene Mutations Detection

Thalassemia affects around 4.83 percent of the world’s population. Marriage testing, pregnancy examination,and obstetric examination are the best ways to prevent the birth of children with severe Thalassemia.

Relying on the microarray platform, using multiple allele-specific PCR and general chip technology, it can detect the mutation sites and deletion fragments of the thalassemia gene. A total of 25 mutations of α- thalassemia and β- thalassemia genes can be detected simultaneously. The results of the test can be used for clinical diagnosis, epidemiological research, premarital exams, and testing of newborns.

Thalassemia Gene Mutations Detection

What can we do to protect the well-being of moms and infants?

The health of all women of reproductive age, from conception onwards, as well as their infants, should be prioritized through the implementation of preventative interventions that begin well before pregnancy. The following are examples of such preventative steps:

Before conception, screen for potential health issues, including chronic diseases like diabetes, hypertension, and STDs in females
During pregnancy, infections of the reproductive system, such as bacterial vaginosis, group B streptococcus, and human immunodeficiency virus, should be detected and treated as needed. When possible, flu vaccines should be given to women.
During the postpartum period, each newborn is subjected to genetic screening at the appropriate period to allow for early diagnosis and treatment.