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Symptoms and Testing information for EGR2 Gene Dejerine-Sottas Disease Genetic Test

Symptoms and Testing information for EGR2 Gene Dejerine-Sottas Disease Genetic Test

Symptoms of EGR2 Gene Dejerine-Sottas Disease Genetic Test Dejerine-Sottas Disease (DSD), also known as Hereditary Motor and Sensory Neuropathy Type III, is a rare genetic disorder that affects the peripheral nervous system. It is caused by mutations in several genes, including the EGR2 gene. This condition is characterized by a progressive loss of muscle tissue […]

Symptoms and Testing information for LAMP2 Gene Danon Disease Genetic Test

Symptoms and Testing information for LAMP2 Gene Danon Disease Genetic Test

Danon Disease is a rare genetic disorder that affects multiple body systems, including the heart, skeletal muscles, and in some cases, the liver and other organs. This condition is caused by mutations in the LAMP2 gene, which plays a crucial role in the autophagy process, a system within the body that helps in the degradation […]

Symptoms and Testing information for MT-CO3 Gene Cytochrome C Oxidase 3 Deficiency Genetic Test

Symptoms and Testing information for MT-CO3 Gene Cytochrome C Oxidase 3 Deficiency Genetic Test

The MT-CO3 gene plays a critical role in the mitochondrial respiratory chain, specifically in the cytochrome c oxidase complex, which is crucial for energy production within cells. Mutations or deficiencies in this gene can lead to a range of symptoms and conditions, emphasizing the importance of genetic testing for early detection and management. The MT-CO3 […]

Symptoms and Testing information for MT-CO2 Gene Cytochrome C Oxidase 2 Deficiency Genetic Test

Symptoms and Testing information for MT-CO2 Gene Cytochrome C Oxidase 2 Deficiency Genetic Test

In the realm of genetic diagnostics, the understanding and identification of genetic disorders have advanced significantly, providing hope and answers to many affected individuals and their families. Among the myriad of genetic tests available, the MT-CO2 Gene Cytochrome C Oxidase 2 Deficiency Genetic Test stands out as a critical tool in diagnosing a specific mitochondrial […]

Symptoms and Testing information for PRNP Gene Creutzfeldt-Jakob Disease Genetic Test

Symptoms and Testing information for PRNP Gene Creutzfeldt-Jakob Disease Genetic Test

Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, invariably fatal brain disorder, affecting about one in every one million people per year worldwide. It belongs to the family of human and animal diseases known as transmissible spongiform encephalopathies (TSEs) or prion diseases. The disease leads to rapid brain damage and a quick decline in thinking and […]

Symptoms and Testing information for TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test

Symptoms and Testing information for TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test

Symptoms of TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome The TMCO1 gene plays a critical role in human development, influencing various physical and cognitive aspects. Mutations in this gene can lead to a rare and complex condition known as TMCO1 Gene Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome. This syndrome encompasses […]

Symptoms and Testing information for CR1 Gene CR1 Deficiency Genetic Test

Symptoms and Testing information for CR1 Gene CR1 Deficiency Genetic Test

Understanding CR1 Gene and CR1 Deficiency The CR1 gene, also known as the Complement Receptor 1 gene, plays a crucial role in the immune system’s response to pathogens. It is involved in the regulation of the complement system, which is a part of the immune system that enhances the ability of antibodies and phagocytic cells […]

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