Symptoms and Testing information for TANC1 Gene Psychomotor Retardation Genetic Test

Symptoms and Testing information for TANC1 Gene Psychomotor Retardation Genetic Test

Understanding TANC1 Gene Psychomotor Retardation Psychomotor retardation is a condition that significantly affects the physical and cognitive development of an individual. It is characterized by delayed milestones, such as walking and talking, and a general slowness in the execution of movement. The TANC1 gene has been identified as one of the genetic contributors to this […]

Symptoms and Testing information for SCN4A Gene Potassium-Aggravated Myotonia Genetic Test

Symptoms and Testing information for SCN4A Gene Potassium-Aggravated Myotonia Genetic Test

Potassium-aggravated myotonia is a rare neuromuscular disorder characterized by muscle stiffness and difficulty relaxing muscles after contraction. This condition is caused by mutations in the SCN4A gene, which plays a critical role in the proper functioning of muscle cells. Understanding the symptoms of this genetic condition is crucial for early diagnosis and management. DNA Labs […]

Symptoms and Testing information for GAA Gene Pompe Disease Genetic Test

Symptoms and Testing information for GAA Gene Pompe Disease Genetic Test

Symptoms of GAA Gene Pompe Disease Genetic Test Pompe disease, also known as Glycogen Storage Disease Type II, is a rare, inherited lysosomal storage disorder that affects the heart, liver, muscles, and nervous system. It is caused by mutations in the GAA gene, which leads to the accumulation of glycogen in the lysosomes of cells. […]

Symptoms and Testing information for VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test

Symptoms and Testing information for VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test

Understanding genetic conditions is crucial for early diagnosis and treatment. One such rare but significant condition is Pontocerebellar Hypoplasia Type 1A, which is linked to mutations in the VRK1 gene. DNA Labs UAE is at the forefront of genetic testing and offers a comprehensive VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test to aid in […]

Symptoms and Testing information for EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test

Symptoms and Testing information for EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test

Pontocerebellar hypoplasia type 1B (PCH1B) is a rare genetic disorder that affects the development and function of the brain. This condition is characterized by a significant reduction in the size of the cerebellum and brainstem, which are critical for controlling motor functions, balance, and coordination. The EXOSC3 gene plays a pivotal role in the manifestation […]

Symptoms and Testing information for TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test

Symptoms and Testing information for TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals understand their genetic makeup and its implications on their health. Among the various tests provided, the TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test is crucial for diagnosing a rare genetic disorder that affects […]

Symptoms and Testing information for TSEN2 Gene Pontocerebellar Hypoplasia Type 2B Genetic Test

Symptoms and Testing information for TSEN2 Gene Pontocerebellar Hypoplasia Type 2B Genetic Test

Pontocerebellar Hypoplasia Type 2B (PCH2B) is a rare genetic condition that affects the development of the brain, specifically the cerebellum and the brainstem, leading to significant neurological deficits. The TSEN2 gene has been closely associated with this condition, and mutations in this gene are believed to be a key factor in the development of PCH2B. […]

Symptoms and Testing information for TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test

Symptoms and Testing information for TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test

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 […]

Symptoms and Testing information for SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test

Symptoms and Testing information for SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test

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 […]

Symptoms and Testing information for HARS2 Gene Perrault Syndrome Type 2 Genetic Test

Symptoms and Testing information for HARS2 Gene Perrault Syndrome Type 2 Genetic Test

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 […]

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