Symptoms and Testing information for COL2A1 Gene Epiphyseal Dysplasia Multiple with Myopia and Deafness Genetic Test

Symptoms and Testing information for COL2A1 Gene Epiphyseal Dysplasia Multiple with Myopia and Deafness Genetic Test

Understanding the symptoms and genetic underpinnings of complex medical conditions is crucial for effective diagnosis and treatment. One such condition, Epiphyseal Dysplasia Multiple with Myopia and Deafness, is linked to mutations in the COL2A1 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, which is essential for individuals experiencing symptoms or with […]

Symptoms and Testing information for FGD1 Gene Faciogenital Dysplasia Genetic Test

Symptoms and Testing information for FGD1 Gene Faciogenital Dysplasia Genetic Test

Faciogenital dysplasia, also known as Aarskog-Scott syndrome, is a rare genetic disorder that primarily affects the development of the face, hands, and genitals. It is caused by mutations in the FGD1 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the […]

Symptoms and Testing information for CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test

Symptoms and Testing information for CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test

Understanding CANT1 Gene Desbuquois Dysplasia Type 1 Desbuquois Dysplasia is a rare genetic disorder that affects bone development in individuals. It is primarily caused by mutations in the CANT1 gene. This condition is characterized by a variety of symptoms that can significantly impact the quality of life of those affected. Recognizing the symptoms early on […]

Symptoms and Testing information for MYCN Gene Feingold Syndrome Genetic Test

Symptoms and Testing information for MYCN Gene Feingold Syndrome Genetic Test

Understanding Feingold Syndrome and the Role of MYCN Gene Feingold syndrome is a rare genetic disorder that affects many parts of the body. It is characterized by specific physical anomalies and developmental delays. The condition is primarily caused by mutations in the MYCN gene, a critical component in the development of various tissues in the […]

Symptoms and Testing information for XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test

Symptoms and Testing information for XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test

Desbuquois Dysplasia is a rare genetic disorder that affects bone development in individuals. It is characterized by a variety of symptoms that can impact a person’s quality of life significantly. Among the genes associated with this condition, mutations in the XYLT1 gene have been identified to cause Desbuquois Dysplasia Type 2. Understanding the symptoms and […]

Symptoms and Testing information for DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test

Symptoms and Testing information for DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test

Understanding the genetic underpinnings of various conditions is a crucial step towards providing targeted and effective treatments. Among these genetic conditions is the Fetal Akinesia Deformation Sequence (FADS), which has been linked to mutations in the DOK7 gene. This article aims to shed light on the symptoms associated with DOK7 gene mutations and the importance […]

Symptoms and Testing information for DHCR24 Gene Desmosterolosis Genetic Test

Symptoms and Testing information for DHCR24 Gene Desmosterolosis Genetic Test

Symptoms of DHCR24 Gene Desmosterolosis Genetic Test Desmosterolosis, a rare genetic disorder, is caused by mutations in the DHCR24 gene. This condition affects cholesterol biosynthesis, leading to a variety of clinical manifestations. Recognizing the symptoms early is crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for DHCR24 gene mutations […]

Symptoms and Testing information for RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test

Symptoms and Testing information for RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test

Fetal Akinesia Deformation Sequence (FADS) is a rare genetic disorder that presents a significant challenge for affected families. This condition, characterized by decreased fetal movement (fetal akinesia), can lead to a range of developmental issues including joint deformities, facial anomalies, lung growth problems, and in severe cases, fetal death. The RAPSN gene plays a crucial […]

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