Understanding the symptoms of ALS2 gene-related Primary Lateral Sclerosis in juveniles is crucial for early diagnosis and management of the condition. The ALS2 gene plays a significant role in maintaining the health of nerve cells in the brain, and mutations in this gene can lead to several neurological disorders, including juvenile Primary Lateral Sclerosis (PLS). […]
At DNA Labs UAE, we are committed to providing our clients with comprehensive and reliable genetic testing services. One of the specialized tests we offer is for the POLG gene, which is associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, an autosomal dominant disorder. This condition, although rare, can have significant impacts on […]
Pontocerebellar hypoplasia type 2C (PCH2C) is a rare genetic disorder that affects the development and function of the brain. This condition is characterized by the underdevelopment of the cerebellum and brainstem, leading to significant neurological deficits. The TSEN34 gene has been identified as one of the genetic contributors to this condition. Understanding the symptoms of […]
Pontocerebellar Hypoplasia (PCH) is a group of rare genetic disorders that affect the development of the brain, particularly the cerebellum and the brainstem. Among the various types of PCH, Type 2D is specifically associated with mutations in the SEPSECS gene. This condition is characterized by significant neurodevelopmental delay, microcephaly (a condition where the head circumference […]
Perrault syndrome is a rare genetic disorder that affects both males and females, but its symptoms are more pronounced and severe in females. It is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females, which can lead to premature ovarian failure. One of the genes associated with this condition is the […]
Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders characterized by the underdevelopment of the cerebellum and often the brainstem, leading to significant neurological impairments. Among the various types, Pontocerebellar Hypoplasia Type 2E (PCH2E) is particularly noteworthy due to its genetic basis – a mutation in the VPS53 gene. Understanding the symptoms and genetic […]
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 […]
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 of TWNK Gene Perrault Syndrome Type 5 Genetic Test Perrault syndrome is a rare genetic disorder that affects both males and females, though the symptoms can be more severe and varied in females. It is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females. The syndrome has several types, with […]
— Symptoms of TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test Pontocerebellar Hypoplasia Type 5 (PCH5) is a severe neurological disorder that affects the development and function of the brain. It is caused by mutations in the TSEN54 gene, which plays a crucial role in brain development. Recognizing the symptoms of this condition early can […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
