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 […]
Neurology Diseases
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 […]
Symptoms and Testing information for COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 Genetic Test
Ullrich Congenital Muscular Dystrophy Type 1 (UCMD1) is a rare genetic disorder that affects muscle function and development. This condition is caused by mutations in the COL6A3 gene, which plays a critical role in the strength and stability of muscle and connective tissue. Early diagnosis and understanding of the symptoms can greatly assist in managing […]
Symptoms and Testing information for COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test
Symptoms of COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Ullrich Congenital Muscular Dystrophy Type 2, a rare genetic disorder, is caused by mutations in the COL12A1 gene. This condition is characterized by muscle weakness, joint flexibility issues, and developmental delays in motor skills. Recognizing the symptoms early can significantly impact the management and quality […]
Symptoms and Testing information for CSTB Gene Unverricht-Lundborg Disease Genetic Test
Unverricht-Lundborg disease, also known as Baltic myoclonus or progressive myoclonic epilepsy, is a rare inherited disorder that affects the nervous system. It typically begins in childhood or adolescence and is characterized by episodes of involuntary muscle jerking or twitching (myoclonus), seizures, and, in some cases, a decline in cognitive abilities. The disease is caused by […]
Symptoms and Testing information for UROC1 Gene Urocanase Deficiency Genetic Test
Symptoms of UROC1 Gene Urocanase Deficiency Genetic Test The UROC1 gene plays a critical role in the breakdown process of histidine, an essential amino acid necessary for growth and tissue repair. A deficiency in the UROC1 gene, known as Urocanase Deficiency, can lead to a range of health issues due to the accumulation of urocanic […]
Symptoms and Testing information for CRB2 Gene Ventriculomegaly with Cystic Kidney Disease Genetic Test
Ventriculomegaly with cystic kidney disease is a rare genetic disorder that has garnered significant attention within the medical community. This condition is primarily associated with mutations in the CRB2 gene, which plays a crucial role in the development and function of several body systems. DNA Labs UAE is at the forefront of genetic testing for […]