Symptoms and Testing information for SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test

Symptoms and Testing information for SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test

The SLC35A2 gene glycosylation disorder, also known as Congenital Disorder of Glycosylation Type 2M (CDG2M), is a rare genetic condition that affects the body’s ability to properly glycosylate proteins and lipids, which are crucial for various cellular functions. This disorder can lead to a wide range of symptoms, which can vary significantly in severity among […]

Symptoms and Testing information for COG6 Gene Glycosylation Disorder Type 3 Genetic Test

Symptoms and Testing information for COG6 Gene Glycosylation Disorder Type 3 Genetic Test

Genetic testing has become a cornerstone in the diagnosis and understanding of various genetic disorders. One such condition that has gained attention in the medical community is the COG6 gene glycosylation disorder type 3. This disorder is a rare genetic condition that affects multiple systems in the body, leading to a wide range of symptoms. […]

Symptoms and Testing information for DDOST Gene Glycosylation Disorder Type IR Genetic Test

Symptoms and Testing information for DDOST Gene Glycosylation Disorder Type IR Genetic Test

Understanding the complexities of genetic disorders is crucial for early diagnosis and management. One such disorder is the DDOST Gene Glycosylation Disorder Type IR, a condition that can have significant implications on an individual’s health. DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive genetic test specifically designed to detect this […]

Symptoms and Testing information for SSR4 Gene Glycosylation Disorder X-Linked Genetic Test

Symptoms and Testing information for SSR4 Gene Glycosylation Disorder X-Linked Genetic Test

Symptoms of SSR4 Gene Glycosylation Disorder X-Linked Genetic Test The SSR4 gene plays a crucial role in the proper functioning of the body’s cellular processes, specifically in the glycosylation pathway, which is essential for protein folding and stability. Mutations in the SSR4 gene can lead to a rare, X-linked genetic disorder known for its complex […]

Symptoms and Testing information for GLB1 Gene GM1-Gangliosidosis Type 1 Genetic Test

Symptoms and Testing information for GLB1 Gene GM1-Gangliosidosis Type 1 Genetic Test

GM1-Gangliosidosis is a rare genetic disorder that impacts how the body metabolizes certain lipids. This condition is caused by mutations in the GLB1 gene, which leads to the accumulation of GM1 gangliosides in tissues and organs. This accumulation, particularly in the nerve cells of the brain, can lead to severe neurological impairment. GM1-Gangliosidosis is classified […]

Symptoms and Testing information for GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test

Symptoms and Testing information for GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test

GM1-gangliosidosis is a rare inherited disorder that affects the way the body metabolizes certain lipids. This condition is caused by mutations in the GLB1 gene, which encodes the enzyme beta-galactosidase. The deficiency of this enzyme leads to the accumulation of GM1 gangliosides in tissues and organs, particularly affecting the brain and nervous system. Type 2 […]

Symptoms and Testing information for HEXB Gene GM2-Gangliosidosis Type 2 Genetic Test

Symptoms and Testing information for HEXB Gene GM2-Gangliosidosis Type 2 Genetic Test

Genetic testing has revolutionized the way we understand and manage genetic disorders. Among these, GM2-Gangliosidosis Type 2, also known as Sandhoff disease, is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The HEXB gene is responsible for this condition, and mutations in this gene lead to the […]

Symptoms and Testing information for GAMT Gene Guanidinoacetate Methyltransferase Deficiency Genetic Test

Symptoms and Testing information for GAMT Gene Guanidinoacetate Methyltransferase Deficiency Genetic Test

Guanidinoacetate Methyltransferase (GAMT) deficiency is a rare disorder that affects the body’s ability to produce creatine, a molecule crucial for energy storage in cells, particularly in the brain and muscles. This genetic condition, caused by mutations in the GAMT gene, can lead to a range of neurological and physical symptoms. Recognizing these symptoms early can […]

Symptoms and Testing information for SLC6A19 Gene Hartnup Disorder Genetic Test

Symptoms and Testing information for SLC6A19 Gene Hartnup Disorder Genetic Test

Hartnup disorder is a rare genetic condition that affects the body’s ability to absorb certain amino acids from the diet, leading to a range of symptoms. This disorder is caused by mutations in the SLC6A19 gene, which plays a crucial role in the transport of amino acids in the kidneys and intestines. Understanding the symptoms […]

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