DMD (Duchenne muscular dystrophy)/ BMD (Becker 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 CapitalBiotech uses NGS combined with multi-method platform to detect common recessive genetic diseases, 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, systemic neuropathy.
The Disease Susceptibility Genetic Test-APOE
The test is based on biochip technology. By detecting two gene loci that determine APOE protein polymorphism, it evaluates their impact on the risk of cardiovascular and cerebrovascular diseases, and metabolic diseases.
Epilepsy-related Gene Detection
The Epilepsy-related gene testing of CapitalBiotech is based on BES4000 semi-conductor sequencing platform, using target region capture and NGS technology together to detect the genes related to epilepsy.
The Disease Susceptibility Genetic Test-ADIPO
This test is based on biochip technology and evaluates the influence of these loci on cardiovascular and cerebrovascular diseases, metabolic diseases, tumors and other diseases by detecting two loci of the adiponectin gene.
The Disease Susceptibility Genetic Test-Obesity
This test is based on biochip technology and evaluates the genetic risk of obesity, the effect of different nutrients in the diet, different exercise methods on the weight loss effect, by detecting the genes related to the occurrence of obesity in the human body.
Human Mitochondrial Genome Detection
Mitochondrial diseases refer to a group of multi-system diseases caused by dysfunction of the mitochondrial respiratory chain, which leads to ATP synthesis disorder. They can occur in any part of the body or at any age, and the incidence is about 1/8500.