Symptoms and Testing information for TIMM8A Gene Dystonia-Deafness Syndrome Genetic Test

Symptoms and Testing information for TIMM8A Gene Dystonia-Deafness Syndrome Genetic Test

Symptoms of TIMM8A Gene Dystonia-Deafness Syndrome Genetic Test The TIMM8A gene dystonia-deafness syndrome, also known as Mohr-Tranebjaerg syndrome (MTS), is a rare X-linked recessive disorder characterized by a variety of symptoms. These symptoms primarily include dystonia, which is a movement disorder causing involuntary muscle contractions, and sensorineural deafness. Understanding the symptoms of this syndrome is […]

Symptoms and Testing information for TOR1A Gene DYT1 Genetic Test

Symptoms and Testing information for TOR1A Gene DYT1 Genetic Test

In the realm of medical genetics, understanding the intricacies of our DNA can provide crucial insights into numerous conditions that affect human health. One such condition is associated with mutations in the TOR1A gene, which is linked to a specific form of dystonia known as DYT1 dystonia. This disorder is characterized by involuntary muscle contractions […]

Symptoms and Testing information for KMT2C Gene Developmental Delay KMT2C Related Genetic Test

Symptoms and Testing information for KMT2C Gene Developmental Delay KMT2C Related Genetic Test

Developmental delays in children are a significant concern for many parents, prompting them to seek answers and interventions that can support their child’s growth and development. Among the genetic factors that can lead to developmental delays, mutations in the KMT2C gene have been identified as a notable cause. Recognizing the symptoms associated with KMT2C gene […]

Symptoms and Testing information for DNM2 Gene DI-CMTB Genetic Test

Symptoms and Testing information for DNM2 Gene DI-CMTB Genetic Test

In the realm of genetic testing and diagnostics, the advancement of technology has brought to light numerous genetic conditions that were previously difficult to diagnose. One such condition is associated with mutations in the DNM2 gene, which can lead to a specific type of Charcot-Marie-Tooth disease known as DI-CMTB. This article aims to provide comprehensive […]

Symptoms and Testing information for YARS1 Gene DI-CMTC Genetic Test

Symptoms and Testing information for YARS1 Gene DI-CMTC Genetic Test

Understanding the YARS1 Gene DI-CMTC Genetic Test The YARS1 gene plays a critical role in human biology, and mutations in this gene can lead to a variety of health issues, including the development of DI-CMTC (Dominant Intermediate Charcot-Marie-Tooth disease). Recognizing the symptoms of conditions linked to the YARS1 gene is crucial for timely diagnosis and […]

Symptoms and Testing information for MPZ Gene DI-CMTD Genetic Test

Symptoms and Testing information for MPZ Gene DI-CMTD Genetic Test

Understanding the symptoms associated with mutations in the MPZ gene, which can lead to a condition known as Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMTD), is crucial for early diagnosis and management. The MPZ gene plays a significant role in the functioning of peripheral nerves, and its mutations can disrupt nerve transmission, leading to a range of […]

Symptoms and Testing information for PRX Gene Dejerine-Sottas Disease Genetic Test

Symptoms and Testing information for PRX Gene Dejerine-Sottas Disease Genetic Test

Dejerine-Sottas Disease, also known as Hereditary Motor and Sensory Neuropathy Type III, is a genetic condition that affects the peripheral nervous system. It is characterized by severe demyelination of peripheral nerves, leading to muscle weakness, sensory loss, and in some cases, deformities of the extremities. The PRX gene plays a significant role in the development […]

Symptoms and Testing information for GABRG2 Gene Dravet Syndrome Genetic Test

Symptoms and Testing information for GABRG2 Gene Dravet Syndrome Genetic Test

Dravet Syndrome, a severe form of epilepsy, manifests in the first year of a child’s life with frequent and prolonged seizures. These seizures are often triggered by high temperatures or fever but can occur without any apparent cause. As the child ages, the condition can lead to developmental delays, behavioral issues, and ongoing challenges with […]

Symptoms and Testing information for SCN2A Gene Dravet Syndrome Genetic Test

Symptoms and Testing information for SCN2A Gene Dravet Syndrome Genetic Test

Understanding the complexities of genetic disorders is crucial for early diagnosis and management. Among these, Dravet Syndrome stands out due to its severe implications on those affected. This condition, primarily caused by mutations in the SCN2A gene, leads to a spectrum of symptoms that can significantly impact the quality of life. At DNA Labs UAE, […]

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