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. […]

Symptoms and Testing information for SCN1A Gene Familial Hemiplegic Migraine Type 3 Genetic Test

Symptoms and Testing information for SCN1A Gene Familial Hemiplegic Migraine Type 3 Genetic Test

Familial Hemiplegic Migraine (FHM) is a rare form of migraine headache that, unlike typical migraines, involves some degree of paralysis (hemiplegia) during the episode. Type 3 Familial Hemiplegic Migraine (FHM3) is specifically linked to mutations in the SCN1A gene. Recognizing the symptoms and understanding the genetic underpinnings of this condition is crucial for effective management […]

Symptoms and Testing information for CHD2 Gene Epileptic encephalopathy childhood-onset Genetic Test

Symptoms and Testing information for CHD2 Gene Epileptic encephalopathy childhood-onset Genetic Test

Symptoms of CHD2 Gene Epileptic Encephalopathy Childhood-Onset Epileptic encephalopathies are a group of severe brain disorders characterized by the onset of epilepsy in the context of cognitive, sensory, and motor impairments. One such disorder, linked to mutations in the CHD2 gene, manifests in childhood and is known for its profound impact on neurological development. Recognizing […]

Symptoms and Testing information for MAPK10 Gene Epileptic encephalopathy Lennox-Gastaut type Genetic Test

Symptoms and Testing information for MAPK10 Gene Epileptic encephalopathy Lennox-Gastaut type Genetic Test

Epileptic encephalopathies represent a group of severe brain disorders in which epilepsy is accompanied by cognitive, sensory, and motor impairments. Among these, Lennox-Gastaut syndrome (LGS) stands out as a particularly challenging condition, characterized by a triad of multiple seizure types, cognitive dysfunction, and a specific EEG pattern. Recent advancements in genetics have identified the MAPK10 […]

Symptoms and Testing information for KCNA1 Gene Episodic ataxia type 1 Genetic Test

Symptoms and Testing information for KCNA1 Gene Episodic ataxia type 1 Genetic Test

Episodic ataxia type 1 (EA1) is a rare genetic disorder that affects the nervous system, leading to intermittent episodes of ataxia, or lack of muscle control and coordination. This condition is caused by mutations in the KCNA1 gene, which plays a critical role in regulating the electrical signals in the brain and other parts of […]

Symptoms and Testing information for CACNA1A Gene Episodic ataxia type 2 Genetic Test

Symptoms and Testing information for CACNA1A Gene Episodic ataxia type 2 Genetic Test

Episodic ataxia type 2 (EA2) is a rare, genetically inherited neurological disorder characterized by bouts of ataxia, which refers to a lack of muscle control or coordination of voluntary movements. This condition is caused by mutations in the CACNA1A gene, which plays a critical role in the communication between neurons in the brain. Understanding the […]

Symptoms and Testing information for CACNB4 Gene Episodic ataxia type 5 Genetic Test

Symptoms and Testing information for CACNB4 Gene Episodic ataxia type 5 Genetic Test

Episodic ataxia type 5 is a rare genetic disorder that affects the nervous system, leading to intermittent episodes of poor coordination and balance (ataxia). This condition is caused by mutations in the CACNB4 gene, which plays a crucial role in the proper functioning of calcium channels in the body. These channels are essential for the […]

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