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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 of PC Gene Pyruvate Carboxylase Deficiency Genetic Test Pyruvate carboxylase deficiency is a rare genetic disorder that affects the body’s ability to convert carbohydrates and sugars into energy. This condition, resulting from mutations in the PC gene, impairs the normal functioning of the enzyme pyruvate carboxylase. This enzyme plays a crucial role in the […]
Pyridoxine-dependent epilepsy (PDE) is a rare but severe form of epilepsy that emerges in infancy or early childhood. This condition is directly linked to mutations in the ALDH7A1 gene. Understanding the symptoms associated with this genetic disorder is crucial for early diagnosis and treatment, which can significantly improve the quality of life for affected individuals. […]
Understanding ZFHX4 Gene Ptosis Congenital Genetic Test The ZFHX4 gene plays a pivotal role in the development of various physiological features, including eyelid formation. Mutations in the ZFHX4 gene can lead to congenital ptosis, a condition characterized by the drooping of the upper eyelid present at birth. This condition can affect one or both eyes […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
