BGI Diagnosis provides health services throughout the life cycle, involving testing services in reproductive health, genetic diseases, blood diseases, pathogenic microorganisms, cancer and others. 

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. 

BGI Health can assess the risk of canser by gene detection for individualized treatment of cancer and assist doctors in developinig effective individualized treatment plans for cancer patients.

Personalized genetic detection for cancer

BGI Health can obtain genetic variation information of patients, predict the risk of cancer and help the subject develop personalized health programs by combing mature genetic detection technologies such as Sanger bidirectional sequencing, chip capture, high-throughput sequencing and MALDI-TOF MS with bioinformatics analysis; in addition, it can provide cancer patients with comprehensive medication instruction to achieve personalized treatment of cancer. This technology is more professional, more comprehensive and more accurate and can help improve the diagnosis and treatment of clinic cancer. 

Molecular detection of pathogenic microorganisms can determine patient's condition by detecting the genes of pathogenic microorganisms and conducting genotyping so as to develop effective prevention and treatment measures.

Human papilloma virus (HPV) genotyping detection

BGI Health can conduct accurate genotyping for 14 kinds of recognized high-risk HPV and 2 kinds of common low-risk HPV by using flight time mass-spectrometric technique / high-throughput sequencing technology platform. With high sensitivity, high specificity, high throughput and genotyping, this detection technology is an ideal detection platform for clinical hospitals and large-scale cervical cancer screening program.

Hepatitis B virus resistance and genotyping detection

BGI Health can detect the variation information of 11 drug resistance sites related to six nucleoside (acid) antiviral drugs of HBV and distinguish the types of 8 HBV genes (A to H) simultaneously by using sequencing technique. With full understanding of virus information, it can find virus resistance timely and predict disease progression to provide reference for scientific use of medicine and help the development of individualized antiretroviral treatment programs. 

Gene detection for individualized treatment of Hepatitis C

BGI Health can conduct detection for HCV genotyping by applying sequencing technique and comprehensively distinguish 6 main types of HCV and subordinate 19 subtypes. The detection can cover all common types among Chinese population. In addition, BGI Health can also carry out quantitative determination of HCV RNA by using fluorescent quantitation PCR method. HCV genotyping and quantitative detection can be carried out in one clinical gene detection which will predict disease progression, provide instructions for pharmacy and monitor the number and replication of body virus. 

Hereditary disease associated gene detection can be taken as an auxiliary method for diagnosis or treatment of clinically suspected patients to provide the basis for detection and diagnosis of genetic disease among high-risk population.  

Genetic detection for single gene inheritance disease

BGI Health mainly uses the target sequence capture high-throughput sequencing to conduct clinical genetic testing and carrier screening on single gene inheritance diseases that may cause serous harms to multiple body systems, including neuromuscular disease, hereditary arrhythmias, endocrine metabolic disease, ophthalmic genetic disease and other genetic diseases. This detection technology is comprehensive, accurate and of high-throughput. It can detect multiple types of mutation as well as many genes /samples simultaneously, solve those clicinal diseases that have relatively complex virulence genes or in need of differential diagnosis and provide basis for genetic counseling, prenatal diagnosis and targeted gene therapy. 

Exome gene detection

BGI Health can conduct re-sequencing of individual’s whole exome to obtain sequence map of exon area and analyze disease-related genes and drug response genes to find virulence genes and potential health problems, thus help the subject enjoy a scientific lifestyle so as to stay away from disease predisposing factors. Through follow-up interpretation, information update and health management services, the subject can enjoy all-round services from understanding of individual characteristics, prevention of disease to guidance of individualized medicine and get life-long benefits from those services . 


Blood disease related molecular detection can provide important basis for diagnosis, clinical treatment and prognosis of diseases by detecting blood disease-related genes. 

Human leukocyte antigen (HLA) high- resolution genotyping

BGI uses gene sequencing (SBT) – based HLA typing technique, known as golden standard for HLA genotyping for clinical detection and high-throughput typing of HLA. BGI is a contract laboratory of the CMDP. As of December 2012, BGI had provided the CMDP with about 250,000 high - resolution HLA type data with high quality , accounting for 56% of total high - resolution data.