Symptoms and Testing information for CAV3 Gene Creatine Phosphokinase Elevated Serum Genetic Test

Symptoms and Testing information for CAV3 Gene Creatine Phosphokinase Elevated Serum Genetic Test

In the realm of genetic testing, advancements have been made to diagnose and understand various conditions that affect human health. One such condition involves the CAV3 gene, which plays a critical role in muscle development and function. The CAV3 gene creatine phosphokinase elevated serum genetic test is a pivotal diagnostic tool for identifying mutations in […]

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 PRX Gene CMT4F Genetic Test

Symptoms and Testing information for PRX Gene CMT4F Genetic Test

Understanding the genetic basis of diseases is a crucial step in the journey towards personalized medicine. One such condition that has garnered attention in the genetic research community is Charcot-Marie-Tooth disease (CMT), specifically the type associated with mutations in the PRX gene, known as CMT4F. DNA Labs UAE offers a comprehensive genetic test for those […]

Symptoms and Testing information for RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test

Symptoms and Testing information for RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test

Coffin-Lowry Syndrome (CLS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by intellectual disability, abnormal facial features, skeletal malformations, and growth delays. The condition is caused by mutations in the RPS6KA3 gene, which plays a critical role in brain development and function. Recognizing the symptoms of Coffin-Lowry Syndrome […]

Symptoms and Testing information for FGD4 Gene CMT4H Genetic Test

Symptoms and Testing information for FGD4 Gene CMT4H Genetic Test

Symptoms of FGD4 Gene CMT4H Genetic Test The FGD4 gene plays a critical role in the development and maintenance of the peripheral nervous system. Mutations in the FGD4 gene can lead to a rare form of Charcot-Marie-Tooth disease known as CMT4H. This condition is characterized by a severe demyelination of the peripheral nerves, leading to […]

Symptoms and Testing information for VPS13B Gene Cohen Syndrome Genetic Test

Symptoms and Testing information for VPS13B Gene Cohen Syndrome Genetic Test

Cohen Syndrome is a rare genetic disorder that is characterized by developmental delay, intellectual disability, small head size (microcephaly), weak muscle tone (hypotonia), and abnormalities in the visual system. This condition is caused by mutations in the VPS13B gene, which plays a crucial role in the proper development and function of various systems in the […]

Symptoms and Testing information for FIG4 Gene CMT4J Genetic Test

Symptoms and Testing information for FIG4 Gene CMT4J Genetic Test

In the realm of genetic testing, understanding the implications of specific gene mutations is crucial for diagnosing and managing various conditions. Among these, mutations in the FIG4 gene, responsible for Charcot-Marie-Tooth disease type 4J (CMT4J), have garnered significant attention. DNA Labs UAE offers comprehensive genetic testing to identify these mutations, providing vital information for individuals […]

Symptoms and Testing information for CNTN1 Gene Compton-North Congenital Myopathy Genetic Test

Symptoms and Testing information for CNTN1 Gene Compton-North Congenital Myopathy Genetic Test

Understanding the genetic underpinnings of various diseases has become a cornerstone of modern medicine, allowing for more precise diagnoses, personalized treatments, and, in some cases, preventive measures to mitigate the impact of congenital conditions. One such condition that has gained attention in the medical community is Compton-North Congenital Myopathy, which is linked to mutations in […]

Symptoms and Testing information for GNB4 Gene CMTDIF Genetic Test

Symptoms and Testing information for GNB4 Gene CMTDIF Genetic Test

Understanding the genetic underpinnings of various conditions is a cornerstone of modern medical science. Among these conditions, Charcot-Marie-Tooth disease (CMT), a group of inherited disorders that affect the peripheral nerves, stands out for its complexity and variability. The GNB4 gene is one of the genetic factors associated with a specific subtype of CMT, known as […]

Symptoms and Testing information for B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Genetic Test

Symptoms and Testing information for B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Genetic Test

Congenital muscular dystrophies (CMDs) are a group of genetic disorders characterized by muscle weakness and wasting that are present at birth or develop early in life. Among these, a subtype caused by mutations in the B3GALNT2 gene has gained attention due to its association with a specific form of muscular dystrophy and abnormalities in the […]

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