Symptoms and Testing information for ITPR1 Gene Gillespie Syndrome Genetic Test

Symptoms and Testing information for ITPR1 Gene Gillespie Syndrome Genetic Test

Gillespie Syndrome, a rare genetic disorder, is characterized by aniridia (partial or complete absence of the iris), cerebellar ataxia (lack of muscle coordination affecting speech, eye movements, and the ability to swallow), and intellectual disability. Recent studies have pinpointed mutations in the ITPR1 gene as a primary cause of this condition. DNA Labs UAE offers […]

Symptoms and Testing information for RNF216 Gene Gordon Holmes Syndrome Genetic Test

Symptoms and Testing information for RNF216 Gene Gordon Holmes Syndrome Genetic Test

Symptoms of RNF216 Gene Gordon Holmes Syndrome Genetic Test Gordon Holmes syndrome is a rare genetic disorder characterized by a combination of neurological and endocrine abnormalities. This condition, which affects both the cerebellum and the hypothalamus, leads to a variety of symptoms that can significantly impact an individual’s quality of life. The RNF216 gene plays […]

Symptoms and Testing information for FMR1 Gene Fragile X Syndrome Genetic Test

Symptoms and Testing information for FMR1 Gene Fragile X Syndrome Genetic Test

Fragile X Syndrome (FXS) is a genetic condition that causes a range of developmental problems, including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. The condition is linked to mutations in the FMR1 gene, which plays a […]

Symptoms and Testing information for FMR1 Gene Fragile X Tremorataxia Syndrome Genetic Test

Symptoms and Testing information for FMR1 Gene Fragile X Tremorataxia Syndrome Genetic Test

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetic condition that primarily affects older adults, leading to problems with movement, cognition, and daily functioning. This disorder is linked to mutations in the FMR1 gene, which is also associated with Fragile X syndrome, the most common form of inherited intellectual disability. Understanding the symptoms and undergoing genetic […]

Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test

Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test

Friedreich ataxia (FRDA) is a rare, inherited disease that causes progressive damage to the nervous system. It manifests in symptoms ranging from gait disturbance and speech problems to heart disease. The condition is named after the physician Nicholaus Friedreich, who first described the syndrome in the 1860s. It’s caused by a defect in the FXN […]

Symptoms and Testing information for FLNA Gene Frontometaphyseal Dysplasia Genetic Test

Symptoms and Testing information for FLNA Gene Frontometaphyseal Dysplasia Genetic Test

In the realm of genetic diagnostics, understanding and identifying specific genetic conditions early on can lead to better management and treatment options. One such condition that has garnered attention in the medical community is Frontometaphyseal Dysplasia (FMD), a disorder that stems from mutations in the FLNA gene. DNA Labs UAE, a leading facility in genetic […]

Symptoms and Testing information for FUCA1 Gene Fucosidosis Genetic Test

Symptoms and Testing information for FUCA1 Gene Fucosidosis Genetic Test

Fucosidosis is a rare, genetic disorder that is caused by a deficiency of the enzyme alpha-L-fucosidase, which is necessary for breaking down complex sugar molecules in the body. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be […]

Symptoms and Testing information for ROBO3 Gene Gaze Palsy Horizontal with Progressive Scoliosis Genetic Test

Symptoms and Testing information for ROBO3 Gene Gaze Palsy Horizontal with Progressive Scoliosis Genetic Test

Understanding the complexities of genetic conditions is pivotal in modern healthcare. Among these conditions, a particularly intriguing one is associated with the ROBO3 gene, which can lead to gaze palsy horizontal with progressive scoliosis. This condition is rare and often requires specialized genetic testing for accurate diagnosis and management. DNA Labs UAE stands at the […]

Symptoms and Testing information for KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia Genetic Test

Symptoms and Testing information for KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia Genetic Test

In the realm of genetic testing and diagnostics, understanding the underlying causes of neurological disorders is paramount. Among these disorders, Generalized Epilepsy and Paroxysmal Dyskinesia are particularly challenging conditions, affecting individuals with varying degrees of severity. A significant breakthrough in understanding these conditions has been the identification of the KCNMA1 gene’s role in these disorders. […]

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