“` Understanding MTPAP Gene Spastic Ataxia Type 4 Autosomal Recessive Genetic Test Spastic ataxia type 4, also known as autosomal recessive spastic ataxia type 4 (SPAX4), is a rare genetic disorder characterized by a combination of spasticity and ataxia. This condition results from mutations in the MTPAP gene. Understanding the symptoms and undergoing early genetic […]
Neurology Diseases
Symptoms and Testing information for AFG3L2 Gene Spastic Ataxia Type 5 Autosomal Recessive Genetic Test
Understanding the symptoms and genetic background of Spastic Ataxia Type 5, an autosomal recessive disorder, is critical for early diagnosis and management. This condition is linked to mutations in the AFG3L2 gene, and DNA Labs UAE offers a comprehensive genetic test to identify these mutations. The test, priced at 4400 AED, is a valuable tool […]
Symptoms and Testing information for PC Gene Pyruvate Carboxylase Deficiency Genetic 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 […]
Symptoms and Testing information for PRRT2 Gene Seizures Benign Familial Infantile Type 2 Genetic Test
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 […]
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 […]