— Understanding the symptoms of COG8 Gene Glycosylation Disorder Type 2H is crucial for early diagnosis and management of the condition. This genetic disorder, also known as Congenital Disorders of Glycosylation (CDG), impacts the normal process of adding sugar chains to proteins, a critical function for various bodily processes. At DNA Labs UAE, we offer […]
Neurology Diseases
Symptoms and Testing information for GAN Gene Giant Axonal Neuropathy Type 1 Genetic Test
Giant Axonal Neuropathy (GAN) Type 1 is a rare genetic disorder that affects the nervous system. The disorder is characterized by a progressive loss of nerve function, which typically begins in childhood. It is caused by mutations in the GAN gene, which plays a crucial role in maintaining the structure and function of nerve cells. […]
Symptoms and Testing information for GLB1 Gene GM1-Gangliosidosis Genetic Test
GM1-gangliosidosis is a rare, inherited lysosomal storage disorder caused by mutations in the GLB1 gene. This gene provides instructions for making an enzyme called beta-galactosidase, which plays a crucial role in the breakdown and recycling of certain molecules within cells. When mutations in the GLB1 gene occur, the activity of beta-galactosidase is reduced or absent, […]
Symptoms and Testing information for ITPR1 Gene Gillespie Syndrome Genetic Test
Gillespie Syndrome, a rare genetic disorder, is characterized by aniridia (partial or complete absence of the iris), cerebellar ataxia (lack of muscle coordination affecting speech, eye movements, and the ability to swallow), and intellectual disability. Recent studies have pinpointed mutations in the ITPR1 gene as a primary cause of this condition. DNA Labs UAE offers […]
Symptoms and Testing information for RNF216 Gene Gordon Holmes Syndrome Genetic Test
Symptoms of RNF216 Gene Gordon Holmes Syndrome Genetic Test Gordon Holmes syndrome is a rare genetic disorder characterized by a combination of neurological and endocrine abnormalities. This condition, which affects both the cerebellum and the hypothalamus, leads to a variety of symptoms that can significantly impact an individual’s quality of life. The RNF216 gene plays […]
Symptoms and Testing information for SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test
GLUT1 Deficiency Syndrome Type 1 is a rare genetic disorder that affects the body’s ability to transport glucose into the brain, leading to a range of neurological symptoms. The condition is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. Early diagnosis and management are crucial for improving the quality […]
Symptoms and Testing information for RAB27A Gene Griscelli Syndrome Type 2 Genetic Test
Griscelli Syndrome is a rare genetic disorder that affects the color of the skin and hair, leading to immunological problems and neurological complications. Among the types of Griscelli Syndrome, Type 2 is particularly notable for its association with the RAB27A gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA […]
Symptoms and Testing information for AMT Gene Glycine Encephalopathy Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide individuals with crucial insights into their genetic makeup. Among these, the AMT Gene Glycine Encephalopathy Genetic Test stands out for its significance in diagnosing a rare but serious condition. This article delves into the […]
Symptoms and Testing information for GCSH Gene Glycine Encephalopathy Genetic Test
Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH), is a rare genetic disorder that affects the body’s ability to break down the amino acid glycine. This condition is caused by mutations in several genes, including the GCSH gene. It leads to an accumulation of glycine in the body, which can cause severe neurological symptoms. DNA […]
Symptoms and Testing information for MGAT2 Gene Glycosylation Disorder Type 2A Genetic Test
Symptoms of MGAT2 Gene Glycosylation Disorder Type 2A Congenital disorders of glycosylation (CDG) are a group of rare genetic conditions that affect a complex process in the body called glycosylation, which is crucial for the proper function of many proteins and fats. The MGAT2 gene glycosylation disorder, also known as CDG Type IIa, is one […]