Symptoms and Testing information for SLC1A3 Gene Episodic ataxia type 6 Genetic Test

Symptoms and Testing information for SLC1A3 Gene Episodic ataxia type 6 Genetic Test

Episodic ataxia type 6 (EA6) is a rare neurological disorder characterized by episodes of ataxia, which is a lack of muscle coordination that can affect speech, eye movements, and the ability to swallow, walk, and perform fine motor tasks. These episodes can vary in frequency and duration, often triggered by stress, physical exertion, or sudden […]

Symptoms and Testing information for EFHC1 Gene Epilepsy juvenile absence type 1 Genetic Test

Symptoms and Testing information for EFHC1 Gene Epilepsy juvenile absence type 1 Genetic Test

Epilepsy is a neurological disorder characterized by recurrent seizures. Among the various types of epilepsy, Juvenile Absence Epilepsy (JAE) is a condition that typically begins in childhood or adolescence. It is crucial to understand the genetic underpinnings of such disorders to provide accurate diagnoses and personalized treatment plans. In this context, the EFHC1 gene plays […]

Symptoms and Testing information for GRIN2A Gene Epilepsy with neurodevelopmental defects Genetic Test

Symptoms and Testing information for GRIN2A Gene Epilepsy with neurodevelopmental defects Genetic Test

Epilepsy is a neurological condition that affects millions of people worldwide, manifesting in recurrent, unprovoked seizures. Among the various forms of epilepsy, genetic factors play a significant role in its development and progression. One such genetic factor is mutations in the GRIN2A gene, which have been associated with epilepsy accompanied by neurodevelopmental defects. Understanding the […]

Symptoms and Testing information for KCNT1 Gene Epilepsy nocturnal frontal lobe Genetic Test

Symptoms and Testing information for KCNT1 Gene Epilepsy nocturnal frontal lobe Genetic Test

Epilepsy is a neurological disorder marked by recurrent, unprovoked seizures. Among its various forms, nocturnal frontal lobe epilepsy (NFLE) presents a unique challenge due to its manifestation primarily during sleep. Recent advancements in genetics have identified the KCNT1 gene as a significant contributor to certain epilepsy syndromes, including NFLE. Understanding the symptoms of KCNT1 gene […]

Symptoms and Testing information for GABRG2 Gene Epilepsy childhood absence type 2 Genetic Test

Symptoms and Testing information for GABRG2 Gene Epilepsy childhood absence type 2 Genetic Test

Epilepsy is a neurological condition characterized by recurrent seizures. Among its various types, Childhood Absence Epilepsy (CAE) is notable for its impact on children, typically between the ages of 4 and 8 years. A significant development in understanding this condition has been the identification of genetic factors that contribute to its manifestation. One such gene, […]

Symptoms and Testing information for CHRNA4 Gene Epilepsy nocturnal frontal lobe type 1 Genetic Test

Symptoms and Testing information for CHRNA4 Gene Epilepsy nocturnal frontal lobe type 1 Genetic Test

Epilepsy is a neurological condition characterized by recurrent seizures, which are sudden bursts of electrical activity in the brain affecting how it works for a short period. Among the various types of epilepsy, Nocturnal Frontal Lobe Epilepsy (NFLE) stands out due to its unique manifestation primarily during sleep. A significant breakthrough in understanding the genetic […]

Symptoms and Testing information for CHRNB2 Gene Epilepsy nocturnal frontal lobe type 3 Genetic Test

Symptoms and Testing information for CHRNB2 Gene Epilepsy nocturnal frontal lobe type 3 Genetic Test

Epilepsy is a neurological condition characterized by recurrent seizures, which are sudden surges of electrical activity in the brain. Among its various types, Nocturnal Frontal Lobe Epilepsy (NFLE) presents a unique pattern, primarily occurring during sleep. Type 3 NFLE, associated with mutations in the CHRNB2 gene, is a rare but significant form, necessitating precise diagnostic […]

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