In the realm of genetic testing, advancements have brought to light numerous conditions that were once shrouded in mystery. Among these, SESAME Syndrome stands out due to its rarity and the complexity of its symptoms. This condition, which is linked to mutations in the KCNJ10 gene, presents a unique set of challenges to both patients […]
Neurology Diseases
Symptoms and Testing information for KIF5A Gene SPG10 Genetic Test
The KIF5A gene plays a crucial role in the body, especially concerning the nervous system’s development and function. Mutations in this gene can lead to a condition known as Spastic Paraplegia 10 (SPG10), a form of hereditary spastic paraplegia. This disorder primarily affects the lower extremities, leading to progressive weakness and spasticity. Understanding the symptoms […]
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 […]
Symptoms and Testing information for MYH7 Gene Scapuloperoneal Myopathy MYH7 Related Genetic Test
Scapuloperoneal myopathy, a condition marked by progressive weakness and atrophy of the muscles, particularly those in the shoulder and lower leg regions, is a disorder that can significantly impact an individual’s quality of life. A variant of this condition, related to mutations in the MYH7 gene, has been a subject of extensive research and clinical […]
Symptoms and Testing information for CALR Gene Schizophrenia CALR Related Genetic Test
Symptoms of CALR Gene Schizophrenia Schizophrenia is a complex and chronic mental disorder that affects how a person thinks, feels, and behaves. It is characterized by episodes of psychosis, including delusions and hallucinations, which can significantly impact an individual’s quality of life. Recent advancements in genetic research have identified the CALR gene as a potential […]
Symptoms and Testing information for CELSR2 Gene Schizophrenia CELSR2 Related Genetic Test
Schizophrenia is a complex mental disorder that affects how a person thinks, feels, and behaves. It is characterized by episodes of psychosis, including hallucinations and delusions, as well as cognitive impairments. The causes of schizophrenia are multifaceted, involving a combination of genetic, environmental, and neurological factors. Recent advancements in genetic research have shed light on […]