Epidermolysis Bullosa Simplex with Muscular Dystrophy (EBS-MD) is a rare genetic disorder that affects the skin and muscles. It is caused by mutations in the PLEC gene, which plays a critical role in the integrity of skin cells and muscle tissue. Individuals with this condition often experience a wide range of symptoms, which can vary […]
2024
Symptoms and Testing information for STXBP1 Gene Early infantile epileptic encephalopathy type 4 Genetic Test
Understanding the genetic underpinnings of various diseases has become a cornerstone of modern medicine, offering insights into diagnosis, treatment, and prevention. Among these, the STXBP1 gene has garnered significant attention due to its link with Early Infantile Epileptic Encephalopathy Type 4 (EIEE4), a severe neurological disorder. This condition, primarily affecting infants, underscores the importance of […]
Symptoms and Testing information for GUF1 Gene Early infantile epileptic encephalopathy type 40 Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and treatment. Among these disorders, Early Infantile Epileptic Encephalopathy Type 40 (EIEE40), associated with mutations in the GUF1 gene, is particularly challenging due to its severe impact on infants. Recognizing the symptoms and opting for genetic testing can be a pivotal step towards managing […]
Symptoms and Testing information for GABRB1 Gene Early infantile epileptic encephalopathy type 45 Genetic Test
Understanding the genetic underpinnings of various diseases has been a significant breakthrough in modern medicine. Among these, the GABRB1 gene’s role in early infantile epileptic encephalopathy type 45 (EIEE45) is a critical area of study. DNA Labs UAE is at the forefront of this research, offering a comprehensive genetic test for this condition. This article […]
Symptoms and Testing information for GRIN2D Gene Early infantile epileptic encephalopathy type 46 Genetic Test
Understanding the complexities of genetic conditions is essential for early diagnosis and management. One such condition that has gained attention in the medical community is Early Infantile Epileptic Encephalopathy Type 46 (EIEE46), caused by mutations in the GRIN2D gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the GRIN2D […]
Symptoms and Testing information for FGF12 Gene Early infantile epileptic encephalopathy type 47 Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and intervention, especially in the case of rare genetic disorders such as Early Infantile Epileptic Encephalopathy Type 47 (EIEE47). This condition, caused by mutations in the FGF12 gene, presents a significant challenge to affected families due to its severe symptoms and impact on the […]
Symptoms and Testing information for SPTAN1 Gene Early infantile epileptic encephalopathy type 5 Genetic Test
DNA Labs UAE is at the forefront of genetic testing, providing comprehensive services to diagnose and understand a variety of genetic conditions. Among the critical tests offered is the SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test. This particular test is pivotal for diagnosing a rare and severe form of epilepsy that begins […]
Symptoms and Testing information for SCN1A Gene Early infantile epileptic encephalopathy type 6 Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help identify various genetic disorders, including Early Infantile Epileptic Encephalopathy Type 6 (EIEE6), also known as Dravet Syndrome. This condition is primarily caused by mutations in the SCN1A gene, which plays a crucial role in the proper functioning of brain cells. […]
Symptoms and Testing information for CUX2 Gene Early infantile epileptic encephalopathy type 67 Genetic Test
Understanding the nuances of genetic conditions is crucial for early diagnosis and treatment. Among these, Early Infantile Epileptic Encephalopathy Type 67 (EIEE67), associated with the CUX2 gene, is a condition that demands attention due to its significant impact on infants. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including a […]
Symptoms and Testing information for KCNQ2 Gene Early infantile epileptic encephalopathy type 7 Genetic Test
At DNA Labs UAE, we understand the challenges and concerns that come with early infantile epileptic encephalopathies (EIEE), particularly when it concerns your child’s health and future. One of the more specific forms of EIEE that has gained attention in the medical community is related to mutations in the KCNQ2 gene, leading to Early Infantile […]