Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, the immune system, and the skin. Type 6 of this syndrome, specifically, is caused by mutations in the ADAR gene. This condition is characterized by a variety of symptoms that can significantly impact the quality of life for those affected. Recognizing these symptoms […]
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Symptoms and Testing information for IFIH1 Gene Aicardi-Goutieres syndrome type 7 Genetic Test
Understanding the complexities of genetic disorders is crucial in the field of medical science, especially when it comes to rare conditions like Aicardi-Goutieres Syndrome (AGS). One of the genes associated with AGS is the IFIH1 gene, and mutations in this gene can lead to the development of Aicardi-Goutieres Syndrome Type 7. DNA Labs UAE offers […]
Symptoms and Testing information for DCPS Gene Al-Raqad syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive suite of tests designed to identify a range of genetic conditions. Among these, the DCPS Gene Al-Raqad Syndrome Genetic Test is pivotal for diagnosing the rare and complex Al-Raqad syndrome. This article delves into the symptoms associated with Al-Raqad syndrome, the significance […]
Symptoms and Testing information for GFAP Gene Alexander disease Genetic Test
Symptoms of GFAP Gene Alexander Disease Genetic Test Alexander disease is a rare and often fatal neurological disorder, which is one of a group of neurological conditions known as the leukodystrophies. These disorders affect the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers. Alexander disease is specifically […]
Symptoms and Testing information for SLC16A2 Gene Allan-Herndon-Dudley syndrome Genetic Test
In the realm of genetic testing, advancements have paved the way for early detection and management of various inherited disorders. One such condition that has garnered attention is Allan-Herndon-Dudley Syndrome (AHDS), a rare X-linked recessive disorder. AHDS is caused by mutations in the SLC16A2 gene, which plays a critical role in the development and function […]
Symptoms and Testing information for ATRX Gene Alpha-thalassemiamental retardation syndrome Genetic Test
The ATRX Gene Alpha-thalassemia/mental retardation syndrome (ATR-X) is a rare and complex genetic condition that affects various aspects of physical and intellectual development. This condition, primarily found in males, is characterized by a combination of alpha-thalassemia, a blood disorder that reduces the production of hemoglobin, and mental retardation, along with a variety of other possible […]
Symptoms and Testing information for ATP1A2 Gene Alternating hemiplegia of childhood type 1 Genetic Test
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that typically manifests in infancy or early childhood. It is characterized by recurrent episodes of paralysis on one side of the body (hemiplegia), which can switch sides. These episodes can last from minutes to days. The ATP1A2 gene has been identified as one of the […]
Symptoms and Testing information for ATP1A3 Gene Alternating hemiplegia of childhood type 2 Genetic Test
Alternating hemiplegia of childhood (AHC) type 2 is a rare neurological disorder that can significantly impact the lives of those affected and their families. This condition is primarily caused by mutations in the ATP1A3 gene. Understanding the symptoms and undergoing genetic testing can be crucial for diagnosis and management. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for AP3B1 Gene Hermansky-Pudlak syndrome type 2 Genetic Test
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. It is characterized by a lack of pigmentation (albinism), bleeding disorders, and lung and bowel diseases. Among its types, Hermansky-Pudlak Syndrome type 2 (HPS-2) is caused by mutations in the AP3B1 gene. This particular type not only shares common symptoms […]
Symptoms and Testing information for HPS3 Gene Hermansky-Pudlak syndrome type 3 Genetic Test
Understanding Hermansky-Pudlak Syndrome Type 3 (HPS3) Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. Among its various types, Type 3, caused by mutations in the HPS3 gene, is significant for its clinical manifestations. It is characterized by a triad of symptoms: oculocutaneous albinism (a condition affecting the coloring […]