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 […]
Dr Padmaja
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
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
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 FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test
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 […]
Symptoms and Testing information for CACNA1A Gene Familial hemiplegic migraine type 1 Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and effective management. One such genetic condition is Familial Hemiplegic Migraine Type 1 (FHM1), linked to mutations in the CACNA1A gene. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide individuals and families with the necessary information for better […]
Symptoms and Testing information for ATP1A2 Gene Familial hemiplegic migraine type 2 Genetic Test
Familial Hemiplegic Migraine Type 2 (FHM2) is a rare form of migraine headache that is passed down through families. This condition is characterized by a variety of symptoms that differentiate it from other types of migraines. The ATP1A2 gene plays a crucial role in this condition, and mutations in this gene are responsible for the […]
Symptoms and Testing information for SCN1A Gene Familial Hemiplegic Migraine Type 3 Genetic Test
Familial Hemiplegic Migraine (FHM) is a rare form of migraine headache that, unlike typical migraines, involves some degree of paralysis (hemiplegia) during the episode. Type 3 Familial Hemiplegic Migraine (FHM3) is specifically linked to mutations in the SCN1A gene. Recognizing the symptoms and understanding the genetic underpinnings of this condition is crucial for effective management […]
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 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 […]