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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.