Facioscapulohumeral dystrophy (FSHD) is a complex and rare muscular disorder, traditionally linked to the DUX4 gene. However, recent advancements in genetic research have identified a related phenotype associated with mutations in the FAT1 gene, leading to a condition that mimics FSHD. DNA Labs UAE, a leading genetic testing facility, offers a comprehensive FAT1 gene facioscapulohumeral […]
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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 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 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 SCN11A Gene Episodic pain syndrome type 3 familial Genetic Test
Understanding SCN11A Gene Episodic Pain Syndrome Type 3 Familial Episodic pain syndrome type 3 familial, linked to the SCN11A gene, is a rare genetic disorder that manifests as episodes of intense pain without a clear trigger. This condition is part of a broader group of disorders known as sodium channelopathies, which affect the way sodium […]
Symptoms and Testing information for SCN10A Gene Episodic pain syndrome type 2 familial Genetic Test
Understanding the nuances of genetic conditions is essential for both patients and healthcare providers. Among these, the SCN10A gene plays a significant role in the human body, particularly concerning the nervous system’s function. Mutations in this gene can lead to a condition known as Episodic Pain Syndrome Type 2, a familial genetic disorder that affects […]
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 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 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 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 […]