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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 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 COLQ Gene Endplate acetylcholinesterase deficiency Genetic Test

Symptoms and Testing information for COLQ Gene Endplate acetylcholinesterase deficiency Genetic Test

Understanding COLQ Gene Endplate Acetylcholinesterase Deficiency The COLQ gene is crucial for the proper functioning of acetylcholinesterase (AChE) at the neuromuscular junction. AChE is an enzyme responsible for breaking down acetylcholine, a neurotransmitter that transmits signals between nerve cells and muscles. Deficiencies in this enzyme due to mutations in the COLQ gene can lead to […]

Symptoms and Testing information for BSCL2 Gene Encephalopathy progressive with or without lipodystrophy Genetic Test

Symptoms and Testing information for BSCL2 Gene Encephalopathy progressive with or without lipodystrophy Genetic Test

Understanding the intricacies of genetic disorders is crucial for early diagnosis and management. Among the various conditions that have come under the spotlight for their complex manifestations and genetic underpinnings, BSCL2 Gene Encephalopathy, whether associated with lipodystrophy or not, stands out. This condition, rooted in genetic anomalies, presents a spectrum of symptoms that can significantly […]

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