Spondylocostal dysostosis is a group of rare inherited disorders characterized by abnormalities in the development of the vertebrae and ribs. Among these, Type 5, associated with mutations in the TBX6 gene, is a condition that has garnered significant attention within the medical and research communities. DNA Labs UAE is at the forefront of providing diagnostic […]
Dysmorphology Diseases
Symptoms and Testing information for OBSL1 Gene Three M Syndrome Type 2 Genetic Test
Symptoms of OBSL1 Gene Three M Syndrome Type 2 Genetic Test Three M Syndrome is a rare genetic disorder that is characterized by growth retardation, skeletal abnormalities, and distinctive facial features. Type 2 of this syndrome, specifically, is caused by mutations in the OBSL1 gene. Understanding the symptoms associated with this condition is crucial for […]
Symptoms and Testing information for B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or Without Fractures Genetic Test
Understanding the genetic underpinnings of various diseases has become a cornerstone of modern medicine, offering insights into diagnosis, management, and treatment options that were previously unavailable. Among the genetic conditions that have garnered attention is Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1, a disorder linked to mutations in the B3GALT6 gene. This condition, which can […]
Symptoms and Testing information for COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test
Symptoms of COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test Spondyloperipheral dysplasia is a form of skeletal disorder characterized by short stature, spinal abnormalities, and peripheral dysostosis. It is caused by mutations in the COL2A1 gene, which plays a crucial role in the development and maintenance of the skeletal system. Recognizing the symptoms early on can be […]
Symptoms and Testing information for FBN1 Gene Stiff Skin Syndrome Genetic Test
Stiff Skin Syndrome (SSS) is a rare genetic disorder that is often misunderstood due to its rarity and the subtlety of its symptoms in the early stages. This condition is primarily caused by mutations in the FBN1 gene, which plays a crucial role in the development and function of connective tissue in the body. The […]
Symptoms and Testing information for LIFR Gene Stuve-Wiedemann Syndrome Genetic Test
Stuve-Wiedemann Syndrome (SWS), also known as Schwartz-Jampel Syndrome Type 2, is a rare genetic disorder that is present from birth. This condition is characterized by skeletal abnormalities, muscle weakness, and difficulties in regulating body temperature. It is caused by mutations in the LIFR gene, which plays a crucial role in the development and function of […]
Symptoms and Testing information for HOXD13 Gene Syndactyly Type 1 Genetic Test
Symptoms of HOXD13 Gene Syndactyly Type 1 Genetic Test Syndactyly Type 1, a condition primarily affecting the fingers and toes, results from mutations in the HOXD13 gene. This genetic disorder is characterized by the fusion of two or more digits, which can lead to difficulties in movement and function, as well as cosmetic concerns. Recognizing […]
Symptoms and Testing information for HOXD13 Gene Syndactyly Type 5 Genetic Test
Syndactyly is a condition where two or more fingers or toes are fused together. It can vary in severity, from simple webbing of the skin to more complex fusion involving bones, nerves, and other structures. One particular form of this condition, Syndactyly Type 5, has been linked to mutations in the HOXD13 gene. Understanding this […]
Symptoms and Testing information for BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services that cater to a wide range of genetic conditions, including rare genetic disorders. One such condition is syndactyly associated with the BHLHA9 gene, specifically mesoaxial synostotic syndactyly with phalangeal reduction. This rare genetic disorder affects the development of the hands and feet, […]
Symptoms and Testing information for TANC2 Gene TANC2 Related Brain Disorders Genetic Test
Understanding the complexities of genetic disorders, especially those affecting the brain, is crucial for early diagnosis and management. Among the myriad of genes that have been studied for their role in neurological conditions, the TANC2 gene has emerged as a significant player. Mutations in the TANC2 gene are associated with a range of brain disorders, […]