Perrault Syndrome is a rare genetic disorder that can affect both males and females, but its manifestations tend to be more severe in females. It is characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females, leading to premature menopause. Among the genes associated with Perrault Syndrome, mutations in the LARS2 gene […]
Neurology Diseases
Symptoms and Testing information for TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test
Pontocerebellar hypoplasia type 4 (PCH4), a rare genetic disorder, has garnered significant attention within the medical community due to its impact on the brain’s development. Central to understanding and managing this condition is the TSEN54 gene, mutations of which are directly linked to PCH4. DNA Labs UAE, a leading genetic laboratory, offers comprehensive testing for […]
Symptoms and Testing information for SLC6A3 Gene Parkinsonism-Dystonia Infantile Genetic Test
Understanding the genetic underpinnings of various diseases is a pivotal step in modern medicine, offering insights into diagnosis, management, and potential treatments. Among the genetic tests that have gained prominence for their role in diagnosing complex neurological conditions is the SLC6A3 Gene Parkinsonism-Dystonia Infantile Genetic Test, available at DNA Labs UAE. This test, priced at […]
Symptoms and Testing information for SLC2A1 Gene Paroxysmal Exercise-Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia Genetic Test
Understanding the intricate relationship between our genes and health conditions is a rapidly evolving field within medical science. Among the various genetic conditions that have come to light, those associated with the SLC2A1 gene hold particular interest for researchers and clinicians alike. The SLC2A1 gene is crucial for glucose transport into cells, playing a pivotal […]
Symptoms and Testing information for PNKD Gene Paroxysmal Nonkinesigenic Dyskinesia Genetic Test
Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is a rare neurological disorder characterized by sudden, involuntary movements or muscle contractions that can last from a few minutes to several hours. These episodes are not triggered by sudden movement but can be brought on by stress, caffeine, alcohol, or fatigue. Understanding the symptoms and genetic basis of PNKD is […]
Symptoms and Testing information for ARX Gene Partington Syndrome Genetic Test
— Partington syndrome is a neurological disorder that affects many aspects of development and behavior. It is caused by mutations in the ARX gene, which plays a crucial role in the development of the brain. This condition is characterized by a range of symptoms that can vary significantly in severity among affected individuals. Understanding these […]
Symptoms and Testing information for PLP1 Gene Pelizaeus-Merzbacher Disease Genetic Test
— Pelizaeus-Merzbacher Disease (PMD) is a rare genetic disorder that affects the central nervous system. It is characterized by the disruption of the myelin sheath, the protective covering that surrounds nerve fibers in the brain. This condition is caused by mutations in the PLP1 gene, which plays a crucial role in the development and maintenance […]
Symptoms and Testing information for SLC16A2 Gene Pelizaeus-Merzbacher Disease Genetic Test
Pelizaeus-Merzbacher Disease (PMD) is a rare genetic disorder that affects the central nervous system, impacting the ability of the brain and other parts of the nervous system to communicate effectively. It is caused by mutations in the PLP1 gene, but recent studies have indicated that mutations in the SLC16A2 gene can lead to a similar […]
Symptoms and Testing information for SOX10 Gene Peripheral Demyelinating Neuropathy Waardenburg Syndrome and Hirschsprung Disease Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective treatment. Among these, the SOX10 gene plays a pivotal role in the development of a group of conditions, namely Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, and Hirschsprung Disease. These conditions, while distinct, share a common genetic underpinning that can lead to a wide […]
Symptoms and Testing information for ARFGEF2 Gene Periventricular Heterotopia with Microcephaly Genetic Test
Periventricular heterotopia with microcephaly is a rare genetic disorder that affects brain development. It is caused by mutations in the ARFGEF2 gene. This condition is characterized by the presence of nodules of gray matter located in the wrong place in the brain, due to neurons not migrating properly during development. Additionally, individuals with this condition […]