Symptoms and Testing information for FLNA Gene FG Syndrome Type 2 Genetic Test

Symptoms and Testing information for FLNA Gene FG Syndrome Type 2 Genetic Test

FG Syndrome Type 2 is a rare genetic disorder that has been linked to mutations in the FLNA gene. This condition primarily affects males and can lead to a wide range of physical and developmental challenges. Understanding the symptoms associated with this syndrome is crucial for early diagnosis and management. DNA Labs UAE offers a […]

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 […]

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 SCN9A Gene Erythermalgia primary Genetic Test

Symptoms and Testing information for SCN9A Gene Erythermalgia primary Genetic Test

— Understanding the symptoms of SCN9A Gene Erythermalgia and the importance of genetic testing can be a crucial step towards managing and treating this condition effectively. Erythermalgia, also known as Primary Erythromelalgia (PE), is a rare disorder characterized by episodes of burning pain, increased temperature, and redness in the extremities. The SCN9A gene has been […]

Symptoms and Testing information for ETHE1 Gene Ethylmalonic encephalopathy Genetic Test

Symptoms and Testing information for ETHE1 Gene Ethylmalonic encephalopathy Genetic Test

Ethylmalonic encephalopathy is a rare, inherited metabolic disorder characterized by a wide range of symptoms that can affect numerous systems within the body. It is caused by mutations in the ETHE1 gene, which plays a crucial role in the body’s metabolic processes. Understanding the symptoms of this disorder is vital for early diagnosis and treatment. […]

Symptoms and Testing information for HOXB1 Gene Facial paresis type 3 Genetic Test

Symptoms and Testing information for HOXB1 Gene Facial paresis type 3 Genetic Test

Facial paresis type 3, a condition characterized by the weakness of facial muscles, is a rare but significant disorder that affects individuals right from birth. This condition is primarily associated with mutations in the HOXB1 gene, which plays a crucial role in the development of the facial nerve. Understanding the symptoms and undergoing genetic testing […]

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 […]

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