In the intricate world of genetic disorders, Aicardi-Goutieres syndrome (AGS) stands out due to its complexity and the range of symptoms it presents. AGS is a rare, genetically inherited disease that mimics congenital viral infections without an actual infection, leading to significant neurological and immune system dysfunction. Among the genes associated with AGS, mutations in […]
2024
Symptoms and Testing information for RNASEH2C Gene Aicardi-Goutieres syndrome type 3 Genetic Test
Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. Among the different types of AGS, Type 3 is particularly associated with mutations in the RNASEH2C gene. This condition is known for its early onset, often presenting symptoms in infancy or early childhood, which can significantly impact the quality […]
Symptoms and Testing information for RNASEH2B Gene Aicardi-Goutieres syndrome type 2 Genetic Test
Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, the immune system, and the skin. Among the various genes associated with this condition, mutations in the RNASEH2B gene lead to what is specifically known as AGS type 2. This particular type of AGS manifests through a range of symptoms that can significantly […]
Symptoms and Testing information for TREX1 Gene Aicardi-Goutieres syndrome type 1 Genetic Test
Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. It is a condition that typically presents in infancy or early childhood and can result in a range of neurological and physical symptoms. One of the genes associated with this condition is the TREX1 gene, and mutations in this […]
Symptoms and Testing information for SLC12A6 Gene Agenesis of the corpus callosum with peripheral neuropathy Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and treatment. Among these, the agenesis of the corpus callosum with peripheral neuropathy, related to mutations in the SLC12A6 gene, stands out due to its unique combination of neurological symptoms. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including […]
Symptoms and Testing information for ABCD1 Gene AdrenoleukodystrophyAdrenomyeloneuropathy Genetic Test
Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are genetically inherited conditions that affect the nervous system and adrenal glands, stemming from mutations in the ABCD1 gene. These conditions can lead to a wide range of symptoms, affecting both physical and neurological functions. Understanding these symptoms is crucial for early detection and management of the conditions. DNA Labs […]
Symptoms and Testing information for PLXNB3 Gene Adrenoleukodystrophy x-linked Genetic Test
— Adrenoleukodystrophy (ALD) is a rare genetic condition that affects the nervous system and the adrenal glands. It is linked to the X chromosome, making it more prevalent in males, though females can also be carriers and may exhibit symptoms. The PLXNB3 gene has been identified as one of the key factors in the development […]
Symptoms and Testing information for ABCD1 Gene Adrenoleukodystrophy x-linked Genetic Test
Adrenoleukodystrophy (ALD) is a rare, genetic condition that affects the nervous system and the adrenal glands. It is linked to the X chromosome, which is why it primarily affects males, though female carriers can also exhibit symptoms. The ABCD1 gene mutation is responsible for this disorder. Understanding the symptoms of this condition is crucial for […]
Symptoms and Testing information for ACOX1 Gene Acyl-CoA peroxisomal oxidase deficiency Genetic Test
Understanding genetic disorders and their implications is essential for managing health and preventing severe complications. One such genetic condition is the deficiency of the ACOX1 gene, which leads to acyl-CoA oxidase deficiency. This disorder affects the body’s ability to break down certain fats, leading to an accumulation that can cause damage to organs and tissues. […]
Symptoms and Testing information for KIF7 Gene Acrocallosal syndrome Genetic Test
Acrocallosal Syndrome (ACS) is a rare genetic disorder that presents with a range of physical and cognitive symptoms due to abnormalities in the KIF7 gene. Understanding this condition, its symptoms, and the genetic testing available is crucial for families and individuals who may be affected. DNA Labs UAE is at the forefront of providing comprehensive […]