Understanding the Symptoms of PRRT2 Gene Seizures Benign Familial Infantile Type 2 and the Importance of Genetic Testing Introduction to PRRT2 Gene Seizures Seizures in infants can be a terrifying experience for any parent, often leading to a desperate search for answers and solutions. Among the various types of seizures, those associated with the PRRT2 […]
Neurology Diseases
Symptoms and Testing information for CLCN4 Gene Raynaud-Claes Syndrome Genetic Test
Raynaud-Claes Syndrome is a rare genetic disorder that has captured the attention of the medical community due to its complex presentation and the challenges it poses in diagnosis and management. At DNA Labs UAE, we are at the forefront of providing advanced genetic testing services, including the CLCN4 Gene Raynaud-Claes Syndrome Genetic Test. This test […]
Symptoms and Testing information for KCNQ2 Gene Seizures Benign Neonatal Type 1 Genetic Test
Understanding the nuances of genetic conditions is crucial for early diagnosis and effective management. One such condition that has garnered attention in the neonatal domain is seizures caused by mutations in the KCNQ2 gene, also known as Benign Neonatal Seizures Type 1. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive genetic test specifically […]
Symptoms and Testing information for PQBP1 Gene Renpenning Syndrome Genetic Test
Understanding PQBP1 Gene Renpenning Syndrome Renpenning syndrome is a rare X-linked intellectual disability that predominantly affects males. It is characterized by a range of physical, developmental, and intellectual challenges. The syndrome is caused by mutations in the PQBP1 gene, which plays a crucial role in brain development and function. Recognizing the symptoms of Renpenning syndrome […]
Symptoms and Testing information for MECP2 Gene Rett Syndrome Preserved Speech Variant Genetic Test
Rett Syndrome is a rare, severe neurological disorder that primarily affects females. It is usually caused by mutations in the MECP2 gene. This condition leads to severe impairments, affecting nearly every aspect of the patient’s life: their ability to speak, walk, eat, and even breathe easily. However, there’s a variant known as the Preserved Speech […]
Symptoms and Testing information for SELENON Gene Rigid Spine Muscular Dystrophy Genetic Test
Rigid Spine Muscular Dystrophy (RSMD) is a form of congenital muscular dystrophy that primarily affects the muscles used for movement (skeletal muscles). It is characterized by early-onset muscular weakness and stiffness in the spine. The SELENON gene, previously known as SEPN1, has been identified as one of the critical genes responsible for RSMD. Understanding the […]
Symptoms and Testing information for CAV3 Gene Rippling Muscle Disease Genetic Test
Understanding the nuances of genetic conditions is crucial in the field of medical science, especially when it concerns rare diseases like Rippling Muscle Disease (RMD). This condition, linked to mutations in the CAV3 gene, can significantly impact an individual’s quality of life. DNA Labs UAE stands at the forefront of genetic testing, offering a comprehensive […]
Symptoms and Testing information for SRPX2 Gene Rolandic Epilepsy Mental Retardation and Speech Dyspraxia Genetic Test
Genetic testing has become an invaluable tool in the diagnosis and management of various inherited conditions. Among these, conditions affecting neurological development and function are of particular concern due to their impact on quality of life. The SRPX2 gene has been identified as a key player in a complex syndrome characterized by Rolandic epilepsy, mental […]
Symptoms and Testing information for PMP22 Gene Roussy-Levy Syndrome Genetic Test
Roussy-Levy Syndrome is a rare genetic disorder that affects the peripheral nervous system. It is characterized by a variety of symptoms, primarily affecting muscle coordination and balance. The syndrome is linked to mutations in the PMP22 gene, which plays a crucial role in the development and function of peripheral nerves. Understanding the symptoms of this […]
Symptoms and Testing information for RUBCN Gene Salih Ataxia Genetic Test
In the realm of genetic testing, advancements have paved the way for identifying and understanding a myriad of genetic disorders, one of which is Salih Ataxia. This condition, linked to the RUBCN gene, can have profound impacts on those affected. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the […]