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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.

Hereditary Deafness Gene Detection (227 Genes+Mitochondrial Genome) This test is based on NGS technology, it can detect 227 nuclear genomes + mitochondrial genome sequence, covering reported non-syndromic deafness and syndrome deafness.

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

HLA Typing The HLA (human leucocyte antigen) system encodes the major histocompatibility complex (MHC) proteins in humans, is closely related to the body's immune system. The HLA gene complex is located on a 3.6 Mb region within chromosome 6p21. They are the most polymorphic gene family found in the human genome, with more than 10,000 different HLA alleles reported to date, thus the capacity to mount an immune response can be remarkably different between individuals within a cohort selected from a single population. HLA genes have been strongly implicated in transplant rejection, autoimmune disease, vaccine pharmacogenomics, cancer and infectious diseases. HLA genotyping is the identification of the HLA class I and class II gene polymorphisms for individuals, which is indispensable for transplant matching and disease association studies.