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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 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 PRICKLE2 Gene Epilepsy progressive myoclonic type 5 Genetic Test

Symptoms and Testing information for PRICKLE2 Gene Epilepsy progressive myoclonic type 5 Genetic Test

In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their associated conditions is paramount for both patients and healthcare providers. One such condition, epilepsy progressive myoclonic type 5, has been linked to mutations in the PRICKLE2 gene. This article delves into the symptoms associated with this condition, the significance […]

Symptoms and Testing information for SCARB2 Gene Epilepsy progressive myoclonic type 4 with or without renal failure Genetic Test

Symptoms and Testing information for SCARB2 Gene Epilepsy progressive myoclonic type 4 with or without renal failure Genetic Test

Progressive Myoclonic Epilepsy type 4 (PME4), caused by mutations in the SCARB2 gene, is a rare neurological disorder characterized by a combination of epilepsy, myoclonus (involuntary muscle jerks), and, in some cases, renal failure. Understanding the symptoms and genetic underpinnings of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]

Symptoms and Testing information for CHRNA2 Gene Epilepsy nocturnal frontal lobe type 4 Genetic Test

Symptoms and Testing information for CHRNA2 Gene Epilepsy nocturnal frontal lobe type 4 Genetic Test

Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Among its various forms, nocturnal frontal lobe epilepsy (NFLE) presents a unique set of challenges and symptoms for those affected. The CHRNA2 gene has been identified as one of the genetic factors contributing to NFLE, specifically Type 4. Understanding the symptoms and genetic underpinnings of […]

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 […]

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 […]

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