Zellweger Syndrome is a rare, inherited disorder that disrupts the normal functions of the cell’s peroxisomes. These are structures in cells that help break down toxic substances and synthesize lipids necessary for cell membrane integrity. The PEX13 gene plays a crucial role in the formation and function of peroxisomes. Mutations in the PEX13 gene can […]
Neurology Diseases
Symptoms and Testing information for PEX14 Gene Zellweger Syndrome Genetic Test
Zellweger Syndrome is a rare genetic disorder that belongs to a group of diseases known as peroxisome biogenesis disorders (PBD), which are part of a larger collection of diseases referred to as leukodystrophies. These disorders affect the myelin sheath, a fatty covering that acts as an insulator around nerve fibers in the brain. One of […]
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 […]
Symptoms and Testing information for TTPA Gene Vitamin E Familial Deficiency Genetic Test
In the realm of genetic testing, advancements have allowed us to identify and manage various inherited conditions with greater precision and understanding than ever before. Among these conditions is Vitamin E deficiency due to mutations in the TTPA gene, a rare, autosomal recessive disorder that can lead to significant neurological problems if not diagnosed and […]
Symptoms and Testing information for SNAI2 Gene Waardenburg Syndrome Type 2D Genetic Test
Waardenburg Syndrome (WS) is a rare genetic disorder that affects the color of the skin, hair, and eyes, and can cause hearing loss. Type 2D of this syndrome, specifically, is linked to mutations in the SNAI2 gene. DNA Labs UAE offers a comprehensive genetic test for those who suspect they might carry this specific mutation, […]
Symptoms and Testing information for EDNRB Gene Waardenburg Syndrome-Hirschsprung Disease Genetic Test
Waardenburg Syndrome and Hirschsprung Disease are two genetic disorders that can significantly impact an individual’s quality of life. Both conditions can arise from mutations in the EDNRB gene, and understanding these mutations is crucial for accurate diagnosis and management. DNA Labs UAE offers a comprehensive genetic test designed to identify mutations in the EDNRB gene, […]
Symptoms and Testing information for TTN Gene Tibial Muscular Dystrophy Tardive Genetic Test
Understanding the symptoms of TTN Gene Tibial Muscular Dystrophy Tardive (TMDT) is crucial for early diagnosis and management of the condition. TMDT is a genetic disorder caused by mutations in the TTN gene, which encodes the protein titin. This protein plays a key role in the structure, function, and elasticity of skeletal and cardiac muscles. […]
Symptoms and Testing information for CRPPA Gene Walker-Warburg Syndrome Genetic Test
Walker-Warburg Syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. This rare genetic disorder, affecting approximately 1 in every 100,000 live births, is characterized by muscle weakness, developmental delays, and structural brain defects. Understanding the symptoms of WWS is crucial for early diagnosis and intervention. DNA Labs UAE […]
Symptoms and Testing information for SLITRK1 Gene Tourette Syndrome Genetic Test
Symptoms of SLITRK1 Gene Tourette Syndrome Genetic Test Tourette Syndrome (TS) is a complex neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The condition is named after the French physician Georges Gilles de la Tourette, who first described it in 1885. While the exact cause of Tourette Syndrome is unknown, it […]
Symptoms and Testing information for FKTN Gene Walker-Warburg Syndrome Genetic Test
Symptoms of FKTN Gene Walker-Warburg Syndrome Genetic Test Walker-Warburg Syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. This condition, primarily affecting the development of the muscle, brain, and eyes, is caused by genetic mutations in several genes, including the FKTN gene. Understanding the symptoms of Walker-Warburg Syndrome […]