BGI Diagnosis has formed a reproductive health testing technology system to screen and diagnose genetic disease and infertility disease throughout the process of life generation, gestation, birth and growth.

Non-invasive prenatal genetic testing for fetal chromosomal aneuploidy (NIFTY)

Non-invasive prenatal genetic testing technology for fetal chromosomal aneuploidy (NIFTY) is used to obstain the risk ratio of fetal chromosomal aneuploidy by extracting free DNA from maternal blood, adopting new generation of high-throughput sequencing technology and analyzing biological information. It is accurate, non-invasive, safe, timely and standardized, and mainly used for detection of trisomy 21 syndrome (Down’s syndrome), trisomy 18 syndrome (Edward's syndrome) and trisomy 13 syndrome (Pa Dow’s syndrome).

Shenzhen BGI Clinical Laboratory Center is the only independent third-party clinical examination agency in china that can obtain the qualification to timely apply non-invasive prenatal genetic detection to fetal chromosomal aneuploidy testing. Since 2009, it has cooperated with more than one hundred large hospitals in the world and its tested samples have exceeded 100,000 with relevance ratio and specificity of over 99.9%.

Preimplantation genetic screening and diagnosis (PGS / PGD)

BGI Diagnosis can detect the whole genome of pre-implantation embryo biopsy by using new generation of whole genome sequencing technology, provide detection services for embryonic chromosomal abnormalities (chromosome aneuploidy and chromosomal fragment deletion / duplication of over 16M) and offer molecular – level reference for preimplantation embryo screening. This technology has high throughput, high specificity and high accuracy.

Neonatal deafness testing

BGI Diagnosis can detect 20 sites of those four genes that have high incidence of mutations for genetic deafness by using flight time mass-spectrometric technique / high-throughput sequencing technology platform. With high sensitivity, high specificity, high-throughput and multiple sites, this detection technology is an ideal detection platform for clinical hospitals and large-scale deafness gene screening program.

Neonatal genetic metabolic disease detection

High-throughput liquid chromatography - tandem mass spectrometry (abbreviated LC-MS/MS) can detect 43 inherited metabolic diseases including amino disease,  metabolic disorder of organic acid and oxidation defect of fatty acid through an experiment on the basis of isotope internal standard quantitative (IS) analysis on the concentration of amino acids and acyl carnitine in dried blood samples of neonatus, thus greatly improve detection efficiency. With high accuracy, high efficiency and high-throughput, this detection technology is an ideal detection platform for clinical hospitals and large-scale newborn screening program.

Thalassemia gene detection

For thalassemia gene detection, BGI Diagnosis can accurately detect common and unusual thalassemia types by using SEQUENCING, Gap-PCR and Real time PCR technologies combining with bioinformatics analysis software, thus provide comprehensive thalassemia testing services for clinical and large-scale thalassemia screening and research.

Abortion tissue chromosome abnormality detection

BGI Diagnosis can provide detect services for chromosome aneuploidy and chromosomal fragment deletion / duplication of over 5Mb by DNA extraction from samples such as abortion tissues (including embryo, fetal tissue or villi), curettage tissue and labor induction tissues, combing with new generation of high-throughput sequencing technology and bioinformatics analysis. This technology has broad applicability, comprehensive detection, high success rate, high accuracy, strong expansibility and high efficiency.