Symptoms and Testing information for CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test

Symptoms and Testing information for CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. One such complex condition is Cortical Dysplasia-Focal Epilepsy Syndrome, which is associated with mutations in the CNTNAP2 gene. At DNA Labs UAE, we provide a comprehensive genetic test for this syndrome, aiming to offer insights and guidance for affected individuals and […]

Symptoms and Testing information for RPGRIP1L Gene COACH Syndrome Genetic Test

Symptoms and Testing information for RPGRIP1L Gene COACH Syndrome Genetic Test

COACH Syndrome is a rare genetic disorder that affects multiple organ systems within the body. It is characterized by a range of symptoms that can vary significantly in their severity and presentation among affected individuals. The syndrome is an acronym that stands for Cerebellar vermis hypoplasia, Oligophrenia (intellectual disability), Ataxia (lack of muscle control), Coloboma […]

Symptoms and Testing information for TMEM67 Gene COACH Syndrome Genetic Test

Symptoms and Testing information for TMEM67 Gene COACH Syndrome Genetic Test

COACH Syndrome is a rare genetic disorder that affects multiple organs and systems within the body. It is characterized by a wide range of symptoms that can vary significantly from one individual to another. The condition is caused by mutations in the TMEM67 gene, which plays a crucial role in the development and function of […]

Symptoms and Testing information for COQ2 Gene Coenzyme Q10 Deficiency Type 1 Genetic Test

Symptoms and Testing information for COQ2 Gene Coenzyme Q10 Deficiency Type 1 Genetic Test

Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that can affect multiple systems in the body, leading to a wide range of symptoms. The COQ2 gene plays a crucial role in the biosynthesis of CoQ10, a substance that is essential for the proper functioning of the mitochondria, the energy-producing units within cells. Mutations in […]

Symptoms and Testing information for PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test

Symptoms and Testing information for PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test

Understanding the symptoms of PDSS2 Gene Coenzyme Q10 Deficiency Type 3 and the significance of genetic testing is crucial for early detection and management of this condition. DNA Labs UAE offers comprehensive genetic testing for this specific deficiency, providing insights and guidance for affected individuals and their families. Introduction to PDSS2 Gene Coenzyme Q10 Deficiency […]

Symptoms and Testing information for COQ9 Gene Coenzyme Q10 Deficiency Type 5 Genetic Test

Symptoms and Testing information for COQ9 Gene Coenzyme Q10 Deficiency Type 5 Genetic Test

The COQ9 gene plays a critical role in the body, being fundamentally involved in the synthesis of Coenzyme Q10 (CoQ10), a substance essential for the proper functioning of mitochondria. Mitochondria, known as the powerhouses of the cell, are responsible for producing energy. A deficiency in CoQ10 can lead to a range of health issues, particularly […]

Symptoms and Testing information for PRX Gene CMT4F Genetic Test

Symptoms and Testing information for PRX Gene CMT4F Genetic Test

Understanding the genetic basis of diseases is a crucial step in the journey towards personalized medicine. One such condition that has garnered attention in the genetic research community is Charcot-Marie-Tooth disease (CMT), specifically the type associated with mutations in the PRX gene, known as CMT4F. DNA Labs UAE offers a comprehensive genetic test for those […]

Symptoms and Testing information for RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test

Symptoms and Testing information for RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test

Coffin-Lowry Syndrome (CLS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by intellectual disability, abnormal facial features, skeletal malformations, and growth delays. The condition is caused by mutations in the RPS6KA3 gene, which plays a critical role in brain development and function. Recognizing the symptoms of Coffin-Lowry Syndrome […]

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