Understanding the symptoms and the importance of early diagnosis of genetic disorders is crucial in providing timely and effective treatment. One such rare but significant genetic disorder is Early Infantile Epileptic Encephalopathy Type 8 (EIEE8), caused by mutations in the ARHGEF9 gene. DNA Labs UAE is at the forefront of genetic testing services, offering a […]
2024
Symptoms and Testing information for KCNT1 Gene Early infantile epileptic encephalopathy type 14 Genetic Test
Symptoms of KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe form of epilepsy that appears in the first few months of a child’s life. Among the genetic causes identified for this condition, mutations in the KCNT1 gene have been associated with EIEE […]
Symptoms and Testing information for ST3GAL3 Gene Early infantile epileptic encephalopathy type 15 Genetic Test
Understanding the symptoms of Early Infantile Epileptic Encephalopathy Type 15 (EIEE15) is crucial for early diagnosis and management. This rare but severe condition is caused by mutations in the ST3GAL3 gene, which plays a significant role in brain development. DNA Labs UAE offers a comprehensive genetic test for identifying mutations in the ST3GAL3 gene, aiding […]
Symptoms and Testing information for TBC1D24 Gene Early infantile epileptic encephalopathy type 16 Genetic Test
Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe form of epilepsy that appears in the first few months of a child’s life. Among the genes linked to this condition, TBC1D24 plays a significant role. Mutations in the TBC1D24 gene can lead to Early Infantile Epileptic Encephalopathy Type 16 (EIEE16), a […]
Symptoms and Testing information for GNAO1 Gene Early infantile epileptic encephalopathy type 17 Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and management. Among these, the GNAO1 gene mutation leading to Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) is a significant concern for many parents and healthcare providers. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including tests for the […]
Symptoms and Testing information for GABRA1 Gene Early infantile epileptic encephalopathy type 19 Genetic Test
Understanding the symptoms and early diagnosis of genetic disorders is crucial in providing effective treatment and improving the quality of life for those affected. Among the various genetic conditions, Early Infantile Epileptic Encephalopathy Type 19 (EIEE19), associated with mutations in the GABRA1 gene, is particularly challenging due to its early onset and severe symptoms. DNA […]
Symptoms and Testing information for CDKL5 Gene Early infantile epileptic encephalopathy type 2 Genetic Test
Understanding the symptoms and the importance of early detection in conditions like Early Infantile Epileptic Encephalopathy Type 2 (EIEE2), also known as CDKL5 deficiency disorder, is crucial for parents and caregivers. This rare genetic disorder is characterized by early onset, difficult-to-control seizures, and severe neurodevelopmental impairment. Recognizing the symptoms early on can lead to a […]
Symptoms and Testing information for PIGA Gene Early infantile epileptic encephalopathy type 20 Genetic Test
Understanding the genetic underpinnings of various medical conditions is crucial for early diagnosis and effective treatment. One such condition, Early Infantile Epileptic Encephalopathy Type 20 (EIEE20), is linked to mutations in the PIGA gene. DNA Labs UAE is at the forefront of genetic testing for this condition, providing hope and answers to affected families. This […]
Symptoms and Testing information for NECAP1 Gene Early infantile epileptic encephalopathy type 21 Genetic Test
Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara Syndrome, is a rare neurological disorder characterized by severe seizures and significant developmental delays. Type 21 of this condition, specifically linked to mutations in the NECAP1 gene, presents unique challenges and symptoms for affected infants. Recognizing these symptoms early on is crucial for managing the condition […]
Symptoms and Testing information for DOCK7 Gene Early infantile epileptic encephalopathy type 23 Genetic Test
Understanding the symptoms of specific genetic conditions is crucial for early diagnosis and management. One such condition is Early Infantile Epileptic Encephalopathy Type 23 (EIEE23), which is associated with mutations in the DOCK7 gene. This condition, characterized by early-onset seizures and developmental delay, poses significant challenges to affected individuals and their families. Recognizing the symptoms […]