Dr Padmaja

Symptoms of MECP2 Gene Encephalopathy Neonatal Severe Genetic Test MECP2 gene encephalopathy is a severe neurological disorder that affects neonates and is primarily associated with mutations in the MECP2 gene. This condition is characterized by a spectrum of symptoms that significantly impact the affected individual’s quality of life from a very early age. Understanding these […]

Symptoms of SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test SLC19A3 gene encephalopathy, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD), is a rare genetic disorder that affects the nervous system. This condition is characterized by a wide range of neurological and metabolic symptoms that can vary significantly in their onset and severity. Understanding these symptoms is […]

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. Among these, TRAF3 Gene Encephalopathy represents a rare but significant disorder that requires attention. This condition is characterized by an acute infection-induced susceptibility to herpes-specific encephalitis, particularly type 5. Identifying the symptoms early can lead to timely intervention, potentially saving lives […]

Understanding the complexities of genetic conditions is pivotal in modern medicine, especially when dealing with rare diseases. One such condition is encephalopathy associated with the RANBP2 gene, specifically acute necrotizing encephalopathy type 1 (ANE1). This condition is rare, severe, and often triggered by viral infections. It is characterized by a swift progression of brain damage […]

In the realm of genetic diagnostics, the identification of specific genes responsible for rare neurological disorders has marked a significant milestone. Among these, the SERPINI1 gene plays a pivotal role in a condition known as familial encephalopathy with neuroserpin inclusion bodies (FENIB). DNA Labs UAE stands at the forefront of this diagnostic frontier, offering comprehensive […]

Understanding the intricacies of genetic disorders is crucial for early diagnosis and management. Among the various conditions that have come under the spotlight for their complex manifestations and genetic underpinnings, BSCL2 Gene Encephalopathy, whether associated with lipodystrophy or not, stands out. This condition, rooted in genetic anomalies, presents a spectrum of symptoms that can significantly […]

Understanding COLQ Gene Endplate Acetylcholinesterase Deficiency The COLQ gene is crucial for the proper functioning of acetylcholinesterase (AChE) at the neuromuscular junction. AChE is an enzyme responsible for breaking down acetylcholine, a neurotransmitter that transmits signals between nerve cells and muscles. Deficiencies in this enzyme due to mutations in the COLQ gene can lead to […]

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 […]

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 […]

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 […]