Symptoms and Testing information for TSC1 Gene Tuberous Sclerosis Genetic Test

Symptoms and Testing information for TSC1 Gene Tuberous Sclerosis Genetic Test

Symptoms of TSC1 Gene Tuberous Sclerosis Genetic Test Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC1 […]

Symptoms and Testing information for SYNE1 Gene Spinocerebellar Ataxia Type 8 Autosomal Recessive Genetic Test

Symptoms and Testing information for SYNE1 Gene Spinocerebellar Ataxia Type 8 Autosomal Recessive Genetic Test

Spinocerebellar ataxia type 8, linked to mutations in the SYNE1 gene, represents a significant challenge within the realm of neurological disorders. This autosomal recessive condition, which impacts the nervous system, specifically affects the cerebellum – the part responsible for controlling balance and coordination. As the condition progresses, individuals may face increasing difficulties in movement and […]

Symptoms and Testing information for COQ8A Gene Spinocerebellar Ataxia Type 9 Autosomal Recessive Genetic Test

Symptoms and Testing information for COQ8A Gene Spinocerebellar Ataxia Type 9 Autosomal Recessive Genetic Test

Spinocerebellar ataxia type 9 (SCA9), linked to mutations in the COQ8A gene, is a rare, inherited neurodegenerative disorder that affects the cerebellum, the part of the brain that controls coordination and balance. This condition falls under the broader category of autosomal recessive genetic disorders, meaning that an individual must inherit two copies of the mutated […]

Symptoms and Testing information for TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive Genetic Test

Symptoms and Testing information for TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive Genetic Test

Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1) is a rare genetic disorder that affects the nervous system, leading to a range of neurological symptoms. This condition is caused by mutations in the TDP1 gene and is inherited in an autosomal recessive manner. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA […]

Symptoms and Testing information for SHROOM4 Gene Stocco dos Santos X-Linked Mental Retardation Syndrome Genetic Test

Symptoms and Testing information for SHROOM4 Gene Stocco dos Santos X-Linked Mental Retardation Syndrome Genetic Test

Understanding the genetic underpinnings of various conditions is crucial for accurate diagnosis and effective treatment. Among these conditions is the SHROOM4 gene Stocco dos Santos X-linked mental retardation syndrome. This rare genetic disorder has been the focus of extensive research, leading to the development of specialized genetic tests designed to diagnose this condition accurately. At […]

Symptoms and Testing information for ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test

Symptoms and Testing information for ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test

Spinocerebellar ataxia type 29 (SCA29) is a rare genetic disorder that is congenital and nonprogressive. It is characterized by early-onset cerebellar ataxia, which affects coordination and balance. This condition is caused by mutations in the ITPR1 gene, which plays a crucial role in the signaling pathways within cells, particularly in the cerebellum, which is the […]

Symptoms and Testing information for PDE8B Gene Striatal Degeneration Genetic Test

Symptoms and Testing information for PDE8B Gene Striatal Degeneration Genetic Test

In the realm of genetic testing, advancements are continuously being made to help identify and manage various genetic disorders. Among these, the PDE8B gene striatal degeneration genetic test stands out as a critical tool for diagnosing a rare but impactful condition. DNA Labs UAE is at the forefront of providing this essential service, offering a […]

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