Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test

Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with this condition, mutations in the SMC3 gene have been identified to cause a specific subtype of the syndrome, […]

Symptoms and Testing information for HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test

Symptoms and Testing information for HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the various genes associated with CdLS, mutations in the HDAC8 gene lead to a specific subtype known as Cornelia de Lange Syndrome […]

Symptoms and Testing information for TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test

Symptoms and Testing information for TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test

Symptoms of TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome The TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome is a complex genetic condition that affects various aspects of physical and cognitive development. This syndrome is characterized by a unique set of symptoms that can vary in severity among individuals. Recognizing […]

Symptoms and Testing information for EXT1 Gene Chondrosarcoma Familial Genetic Test

Symptoms and Testing information for EXT1 Gene Chondrosarcoma Familial Genetic Test

Chondrosarcoma is a type of cancer that forms in the bones and joints, primarily affecting the cartilage cells. It is the second most common type of primary bone cancer. While most cases of chondrosarcoma occur sporadically, a small percentage are familial, indicating a genetic predisposition. One of the genes implicated in the familial form of […]

Symptoms and Testing information for RUNX2 Gene Cleidocranial Dysplasia Genetic Test

Symptoms and Testing information for RUNX2 Gene Cleidocranial Dysplasia Genetic Test

Cleidocranial dysplasia (CCD) is a rare genetic disorder that primarily affects the development of bones and teeth. The condition is characterized by abnormal bone growth and development, leading to distinctive physical traits and dental abnormalities. CCD is caused by mutations in the RUNX2 gene, which plays a critical role in the development and maintenance of […]

Symptoms and Testing information for FGFR2 Gene Bent Bone Dysplasia Syndrome Genetic Test

Symptoms and Testing information for FGFR2 Gene Bent Bone Dysplasia Syndrome Genetic Test

— Bent Bone Dysplasia Syndrome, also known as FGFR2-related bent bone dysplasia, is a rare genetic disorder characterized by skeletal abnormalities. It is caused by mutations in the FGFR2 gene, which plays a crucial role in the development and maintenance of bone and tissue structures in the body. Understanding the symptoms and getting an accurate […]

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