Understanding the symptoms of PEX26 Gene Zellweger Syndrome is crucial for early diagnosis and management of the condition. Zellweger Syndrome, a rare genetic disorder, affects multiple systems in the body and is characterized by the absence of functional peroxisomes in the cells. The PEX26 gene plays a significant role in the biogenesis of peroxisomes, and […]
Neurology Diseases
Symptoms and Testing information for PEX6 Gene Zellweger Syndrome Genetic Test
Zellweger Syndrome is a rare, inherited disorder that is part of a group of diseases known as peroxisome biogenesis disorders (PBD), which are part of the larger family of leukodystrophies. These disorders affect the myelin sheath, a fatty covering that acts as an insulator around nerve fibers in the brain. Among the genes associated with […]
Symptoms and Testing information for FUS Gene Tremor Essential Type 4 Genetic Test
In the realm of genetic testing and diagnosis, the advancements have been monumental, offering insights into conditions that were once shrouded in mystery. One such breakthrough has been in the understanding and identification of tremor essential type 4, a condition linked to mutations in the FUS gene. DNA Labs UAE is at the forefront of […]
Symptoms and Testing information for FKRP Gene Walker-Warburg Syndrome or Muscle-Eye-Brain Disease FKRP Related Genetic Test
Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain Disease (MEB) are severe forms of congenital muscular dystrophies associated with brain and eye abnormalities. These conditions are linked to mutations in several genes, including the FKRP gene (Fukutin-Related Protein). Understanding the symptoms and genetic testing options for these diseases is crucial for early diagnosis and management. DNA Labs UAE […]
Symptoms and Testing information for DRD3 Gene Tremor Essential Type 1 Hereditary Genetic Test
Understanding the genetic underpinnings of various diseases is a crucial step towards effective diagnosis and treatment. One such condition that has been the focus of recent genetic studies is the Essential Tremor (ET), a neurological disorder that causes involuntary and rhythmic shaking. It can affect almost any part of the body, but the trembling occurs […]
Symptoms and Testing information for RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test
Warburg Micro Syndrome is a rare genetic disorder that significantly impacts the development and function of various parts of the body. This condition is characterized by a wide range of symptoms, primarily affecting the eyes, brain, and reproductive organs. One of the genes associated with this syndrome is RAB3GAP1, and mutations in this gene lead […]
Symptoms and Testing information for TSC1 Gene Tuberous Sclerosis Genetic Test
Symptoms of TSC1 Gene Tuberous Sclerosis Genetic Test Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC1 […]
Symptoms and Testing information for TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test
Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, eyes, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC2 gene, located on chromosome 16, plays a […]
Symptoms and Testing information for COL6A1 Gene Ullrich Congenital Muscular Dystrophy Genetic Test
Ullrich Congenital Muscular Dystrophy (UCMD) is a severe form of muscular dystrophy characterized by muscle weakness, joint stiffness, and developmental challenges. This condition is primarily caused by mutations in the COL6A1 gene, among others, which play a crucial role in maintaining the structural integrity of muscle and connective tissues. Understanding the symptoms and undergoing genetic […]
Symptoms and Testing information for COL6A2 Gene Ullrich Congenital Muscular Dystrophy Genetic Test
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects muscle development and function. It is part of a group of disorders known as congenital muscular dystrophies, which are characterized by muscle weakness and degeneration starting early in life. One of the genes associated with UCMD is COL6A2. Mutations in this gene can […]