Symptoms and Testing information for EIF2B5 Gene Leukoencephalopathy with vanishing white matter Genetic Test

Symptoms and Testing information for EIF2B5 Gene Leukoencephalopathy with vanishing white matter Genetic Test

Leukoencephalopathy with vanishing white matter (VWM) is a progressive disease that affects the brain’s white matter, leading to significant neurological symptoms. This condition is associated with mutations in several genes, including EIF2B5. Understanding the symptoms of this genetic disorder is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for […]

Symptoms and Testing information for RNASET2 Gene Leukoencephalopathy cystic without megalencephaly Genetic Test

Symptoms and Testing information for RNASET2 Gene Leukoencephalopathy cystic without megalencephaly Genetic Test

Understanding RNASET2 Gene Leukoencephalopathy Cystic Without Megalencephaly Leukoencephalopathy with cysts without megalencephaly caused by mutations in the RNASET2 gene is a rare genetic disorder. This condition is characterized by a variety of symptoms that can affect an individual’s neurological and physical development. The RNASET2 gene plays a critical role in the immune response and RNA […]

Symptoms and Testing information for NDUFS8 Gene Leigh syndrome Genetic Test

Symptoms and Testing information for NDUFS8 Gene Leigh syndrome Genetic Test

Symptoms of NDUFS8 Gene Leigh Syndrome Leigh Syndrome, a severe neurological disorder, often becomes evident in the first year of a child’s life. This condition, linked to the NDUFS8 gene, results in progressive loss of mental and movement abilities, leading to significant developmental setbacks. Recognizing the symptoms early can be crucial for management and treatment. […]

Symptoms and Testing information for GJC2 Gene Leukodystrophy hypomyelinating Genetic Test

Symptoms and Testing information for GJC2 Gene Leukodystrophy hypomyelinating Genetic Test

Leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that affect the brain, spinal cord, and often the peripheral nerves. Among these, hypomyelinating leukodystrophies are characterized by insufficient formation of myelin, the protective sheath around nerve fibers. One specific type of hypomyelinating leukodystrophy is linked to mutations in the GJC2 gene. Understanding the symptoms […]

Symptoms and Testing information for NUBPL Gene Leigh syndrome Genetic Test

Symptoms and Testing information for NUBPL Gene Leigh syndrome Genetic Test

Symptoms of NUBPL Gene Leigh Syndrome Genetic Test Leigh Syndrome, also known as Subacute Necrotizing Encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life. This condition, which stems from genetic mutations, including those affecting the NUBPL gene, leads to progressive loss of mental and movement abilities. Recognizing the symptoms […]

Symptoms and Testing information for AIMP1 Gene Leukodystrophy hypomyelinating type 3 Genetic Test

Symptoms and Testing information for AIMP1 Gene Leukodystrophy hypomyelinating type 3 Genetic Test

Leukodystrophies are a group of rare genetic disorders that affect the white matter of the brain. Among these, Hypomyelinating Leukodystrophy Type 3, linked to mutations in the AIMP1 gene, is particularly noteworthy due to its impact on the nervous system’s development and function. Recognizing the symptoms and understanding the diagnostic process, including the role of […]

Symptoms and Testing information for SDHA Gene Leigh syndrome Genetic Test

Symptoms and Testing information for SDHA Gene Leigh syndrome Genetic Test

Symptoms of SDHA Gene Leigh Syndrome Genetic Test Leigh Syndrome, also known as Subacute Necrotizing Encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life. This condition, which can be linked to mutations in the SDHA gene among others, leads to progressive loss of mental and movement abilities, resulting in […]

Symptoms and Testing information for HSPD1 Gene Leukodystrophy hypomyelinating type 4 Genetic Test

Symptoms and Testing information for HSPD1 Gene Leukodystrophy hypomyelinating type 4 Genetic Test

Leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that affect the brain, spinal cord, and often the peripheral nerves. One specific type of leukodystrophy is Hypomyelinating Leukodystrophy Type 4, caused by mutations in the HSPD1 gene. This condition is characterized by a significant reduction in the formation of myelin, the protective covering of […]

Symptoms and Testing information for ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy Genetic Test

Symptoms and Testing information for ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy Genetic Test

Symptoms of ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Leigh syndrome, also known as Subacute Necrotizing Encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life. This condition, which can be caused by mutations in the ACAD9 gene among others, leads to progressive loss of mental and movement abilities, ultimately […]

Symptoms and Testing information for FAM126A Gene Leukodystrophy hypomyelinating type 5 Genetic Test

Symptoms and Testing information for FAM126A Gene Leukodystrophy hypomyelinating type 5 Genetic Test

Leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that affect the brain, spinal cord, and often the peripheral nerves. Among these, Hypomyelinating Leukodystrophy Type 5, caused by mutations in the FAM126A gene, stands out due to its specific genetic origin and clinical manifestations. Understanding the symptoms of this condition is crucial for early […]

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