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 […]
Understanding TANC1 Gene Psychomotor Retardation Psychomotor retardation is a condition that significantly affects the physical and cognitive development of an individual. It is characterized by delayed milestones, such as walking and talking, and a general slowness in the execution of movement. The TANC1 gene has been identified as one of the genetic contributors to this […]
Progressive Myoclonus Epilepsy (PME) is a group of conditions characterized by myoclonic seizures, epileptic episodes, and, in some cases, neurological decline. Among the various types of PME, Type 8, associated with mutations in the CERS1 gene, is a notable subtype. Understanding the symptoms and genetic underpinnings of CERS1 Gene Progressive Myoclonus Epilepsy Type 8 is […]
Progressive Myoclonus Epilepsy (PME) Type 6, caused by mutations in the GOSR2 gene, is a rare and severe neurological disorder. This condition is characterized by a combination of myoclonic seizures and progressive neurological decline. Recognizing the symptoms early can lead to timely genetic testing and management of the condition. At DNA Labs UAE, we offer […]
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.
