Griscelli Syndrome is a rare genetic disorder that affects the color of the skin and hair, leading to immunological problems and neurological complications. Among the types of Griscelli Syndrome, Type 2 is particularly notable for its association with the RAB27A gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA […]
Neurology Diseases
Symptoms and Testing information for AMT Gene Glycine Encephalopathy Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide individuals with crucial insights into their genetic makeup. Among these, the AMT Gene Glycine Encephalopathy Genetic Test stands out for its significance in diagnosing a rare but serious condition. This article delves into the […]
Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test
Friedreich ataxia (FRDA) is a rare, inherited disease that causes progressive damage to the nervous system. It manifests in symptoms ranging from gait disturbance and speech problems to heart disease. The condition is named after the physician Nicholaus Friedreich, who first described the syndrome in the 1860s. It’s caused by a defect in the FXN […]
Symptoms and Testing information for FLNA Gene Frontometaphyseal Dysplasia Genetic Test
In the realm of genetic diagnostics, understanding and identifying specific genetic conditions early on can lead to better management and treatment options. One such condition that has garnered attention in the medical community is Frontometaphyseal Dysplasia (FMD), a disorder that stems from mutations in the FLNA gene. DNA Labs UAE, a leading facility in genetic […]
Symptoms and Testing information for FUCA1 Gene Fucosidosis Genetic Test
Fucosidosis is a rare, genetic disorder that is caused by a deficiency of the enzyme alpha-L-fucosidase, which is necessary for breaking down complex sugar molecules in the body. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be […]
Symptoms and Testing information for FKTN Gene Fukuyama Congenital Muscular Dystrophy Genetic Test
In the realm of genetic testing and diagnostics, DNA Labs UAE stands at the forefront, offering a comprehensive array of tests designed to identify various genetic disorders, including the Fukuyama Congenital Muscular Dystrophy (FCMD) genetic test. This particular test focuses on the FKTN gene mutations, which are responsible for FCMD, a severe form of muscular […]
Symptoms and Testing information for ROBO3 Gene Gaze Palsy Horizontal with Progressive Scoliosis Genetic Test
Understanding the complexities of genetic conditions is pivotal in modern healthcare. Among these conditions, a particularly intriguing one is associated with the ROBO3 gene, which can lead to gaze palsy horizontal with progressive scoliosis. This condition is rare and often requires specialized genetic testing for accurate diagnosis and management. DNA Labs UAE stands at the […]
Symptoms and Testing information for KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia Genetic Test
In the realm of genetic testing and diagnostics, understanding the underlying causes of neurological disorders is paramount. Among these disorders, Generalized Epilepsy and Paroxysmal Dyskinesia are particularly challenging conditions, affecting individuals with varying degrees of severity. A significant breakthrough in understanding these conditions has been the identification of the KCNMA1 gene’s role in these disorders. […]
Symptoms and Testing information for SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose and manage a variety of conditions, including epilepsy. One specific focus of our work is on the diagnosis of Generalized Epilepsy with Febrile Seizures Plus Type 1 (GEFS+ Type 1), which is associated with mutations in the SCN1B gene. […]
Symptoms and Testing information for TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test
Understanding the complexities of genetic conditions is crucial for both patients and their families. One such condition that has garnered attention in the medical community is Familial Infantile Myoclonic Epilepsy (FIME), a disorder associated with mutations in the TBC1D24 gene. Recognizing the symptoms of this condition early on can significantly impact the management and outcome […]