Symptoms and Testing information for SLC35A1 Gene Glycosylation Disorder Type 2F Genetic Test

Symptoms and Testing information for SLC35A1 Gene Glycosylation Disorder Type 2F Genetic Test

Understanding SLC35A1 Gene Glycosylation Disorder Type 2F Glycosylation is a crucial biological process where sugars are added to proteins and lipids, altering their function and enhancing their stability. The SLC35A1 gene plays a significant role in this process, particularly in the transportation of CMP-sialic acids into the Golgi apparatus for sialylation. Mutations in the SLC35A1 […]

Symptoms and Testing information for PRNP Gene Gerstmann-Straussler Disease Genetic Test

Symptoms and Testing information for PRNP Gene Gerstmann-Straussler Disease Genetic Test

Gerstmann-Straussler-Scheinker disease (GSS) is a rare, inherited neurodegenerative disorder that is caused by mutations in the PRNP gene. This condition is classified under a group of diseases known as prion diseases, which affect the normal folding of prion proteins in the brain, leading to brain damage. The symptoms of GSS can vary widely among affected […]

Symptoms and Testing information for COG8 Gene Glycosylation Disorder Type 2H Genetic Test

Symptoms and Testing information for COG8 Gene Glycosylation Disorder Type 2H Genetic Test

— 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 […]

Symptoms and Testing information for GAN Gene Giant Axonal Neuropathy Type 1 Genetic Test

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

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

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 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

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

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 […]

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