Symptoms of PDE10A Gene Dyskinesia Limb and Orofacial Infantile-Onset The PDE10A gene plays a critical role in the development and function of the brain, impacting various neurological pathways. Mutations in the PDE10A gene can lead to a rare, yet significant, disorder characterized by dyskinesia of the limbs and orofacial region with an onset in infancy. […]

Understanding the complexities of genetic disorders is a significant step towards managing and potentially treating them. Among these genetic conditions, ADCY5 gene dyskinesia familial with facial myokymia is one that has garnered attention due to its unique manifestations and the challenges it poses for those affected. DNA Labs UAE is at the forefront of providing […]

Symptoms of FRRS1L Gene Dysautonomia Dysautonomia associated with the FRRS1L gene presents a complex and multifaceted condition that affects the autonomic nervous system, which controls the involuntary functions of the body, including heart rate, blood pressure, and digestion. This condition can lead to a wide range of symptoms, significantly impacting the quality of life of […]

Dravet Syndrome is a severe form of epilepsy that begins in infancy. It is characterized by frequent, prolonged seizures often triggered by high temperatures or fever. However, the discovery of the role of the SCN9A gene as a modifier in Dravet Syndrome has opened new avenues for understanding and managing this condition. At DNA Labs […]

Understanding the complexities of genetic disorders is crucial for early diagnosis and management. Among these, Dravet Syndrome stands out due to its severe implications on those affected. This condition, primarily caused by mutations in the SCN2A gene, leads to a spectrum of symptoms that can significantly impact the quality of life. At DNA Labs UAE, […]

Dravet Syndrome, a severe form of epilepsy, manifests in the first year of a child’s life with frequent and prolonged seizures. These seizures are often triggered by high temperatures or fever but can occur without any apparent cause. As the child ages, the condition can lead to developmental delays, behavioral issues, and ongoing challenges with […]

Understanding the symptoms associated with mutations in the MPZ gene, which can lead to a condition known as Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMTD), is crucial for early diagnosis and management. The MPZ gene plays a significant role in the functioning of peripheral nerves, and its mutations can disrupt nerve transmission, leading to a range of […]

Understanding the YARS1 Gene DI-CMTC Genetic Test The YARS1 gene plays a critical role in human biology, and mutations in this gene can lead to a variety of health issues, including the development of DI-CMTC (Dominant Intermediate Charcot-Marie-Tooth disease). Recognizing the symptoms of conditions linked to the YARS1 gene is crucial for timely diagnosis and […]

In the realm of genetic testing and diagnostics, the advancement of technology has brought to light numerous genetic conditions that were previously difficult to diagnose. One such condition is associated with mutations in the DNM2 gene, which can lead to a specific type of Charcot-Marie-Tooth disease known as DI-CMTB. This article aims to provide comprehensive […]

Developmental delays in children are a significant concern for many parents, prompting them to seek answers and interventions that can support their child’s growth and development. Among the genetic factors that can lead to developmental delays, mutations in the KMT2C gene have been identified as a notable cause. Recognizing the symptoms associated with KMT2C gene […]