Symptoms and Testing information for BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures Genetic Test

Symptoms and Testing information for BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures Genetic Test

Understanding BRAT1 Gene Neurodevelopmental Disorder The BRAT1 gene neurodevelopmental disorder, also known as rigidity and multifocal seizure syndrome, neonatal onset, or early infantile epileptic encephalopathy 61, is a rare but severe condition that significantly impacts the central nervous system. This disorder is characterized by a range of symptoms, including cerebellar atrophy, which can lead to […]

Symptoms and Testing information for MTM1 Gene Myotubular Myopathy X-Linked Genetic Test

Symptoms and Testing information for MTM1 Gene Myotubular Myopathy X-Linked Genetic Test

Myotubular Myopathy (MTM) is a rare genetic disorder that affects muscle strength and tone from birth or early infancy. Specifically, the MTM1 gene mutation leads to X-linked myotubular myopathy, one of the most severe forms of this condition. DNA Labs UAE offers a comprehensive genetic test for those concerned about this condition, providing invaluable insights […]

Symptoms and Testing information for HCRT Gene Narcolepsy Genetic Test

Symptoms and Testing information for HCRT Gene Narcolepsy Genetic Test

Narcolepsy is a chronic sleep disorder characterized by overwhelming daytime drowsiness and sudden attacks of sleep. It significantly affects the quality of life, making daily activities challenging for those affected. Understanding the genetic basis of narcolepsy has been a significant step forward in diagnosing and managing this condition. One of the critical genetic factors involved […]

Symptoms and Testing information for TPM3 Gene Nemaline Myopathy Type 1 Genetic Test

Symptoms and Testing information for TPM3 Gene Nemaline Myopathy Type 1 Genetic Test

Nemaline Myopathy Type 1, caused by mutations in the TPM3 gene, is a rare genetic disorder that affects muscle function. This condition is characterized by muscle weakness that typically presents from birth or early infancy. The TPM3 gene plays a crucial role in the development and function of skeletal muscles, and mutations in this gene […]

Symptoms and Testing information for ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test

Symptoms and Testing information for ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test

Symptoms of ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test Nemaline Myopathy Type 3, caused by mutations in the ACTA1 gene, is a rare genetic disorder that primarily affects skeletal muscles, responsible for movement. This condition manifests through various symptoms that can significantly impact the quality of life of those affected. Recognizing these symptoms is […]

Symptoms and Testing information for TPM2 Gene Nemaline Myopathy Type 4 Genetic Test

Symptoms and Testing information for TPM2 Gene Nemaline Myopathy Type 4 Genetic Test

Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength, leading to muscle weakness that can range from mild to severe. Among the various types of nemaline myopathy, Type 4, caused by mutations in the TPM2 gene, is of significant interest to researchers and clinicians. Understanding the symptoms of TPM2 gene nemaline […]

Symptoms and Testing information for TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test

Symptoms and Testing information for TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test

Nemaline Myopathy Type 5, caused by mutations in the TNNT1 gene, is a rare genetic disorder that primarily affects muscle tissue, leading to muscle weakness and other significant health issues. Recognizing the symptoms early on can be crucial for managing the condition and improving the quality of life for those affected. DNA Labs UAE offers […]

Symptoms and Testing information for KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test

Symptoms and Testing information for KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test

Nemaline myopathy is a rare genetic disorder that affects muscle tone and strength, leading to a range of physical difficulties. One specific form of this condition, known as Nemaline Myopathy Type 6, is linked to mutations in the KBTBD13 gene. Recognizing the symptoms of this condition early on can be crucial for managing its progression […]

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