Short-Rib Thoracic Dysplasia (SRTD) encompasses a group of rare genetic disorders characterized by abnormalities in the development of the bones of the rib cage and other regions of the body. Type 8 of this disorder, specifically linked to mutations in the WDR60 gene, can present with or without polydactyly – the presence of extra fingers […]
Understanding the genetic underpinnings of rare diseases is crucial for early diagnosis, management, and treatment. One such condition is Short-Rib Thoracic Dysplasia Type 7 with or Without Polydactyly, caused by mutations in the WDR35 gene. This article delves into the symptoms associated with this genetic disorder and introduces a comprehensive genetic test offered by DNA […]
Symptoms of NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia Type 6 (SRTD6), associated with or without polydactyly, is a rare genetic disorder that is part of a group of diseases known as ciliopathies. The NEK1 gene plays a critical role in the development and function of cilia, which […]
Understanding Short-Rib Thoracic Dysplasia Type 5 Short-Rib Thoracic Dysplasia Type 5, also known as Jeune Syndrome, is a rare genetic disorder characterized by a narrow thorax, short ribs, short limbs, and, in some cases, polydactyly. This condition falls under the category of ciliopathies, which are disorders associated with the dysfunction of cilia, microscopic hair-like structures […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. Among these conditions, Short-Rib Thoracic Dysplasia Type 4 with or without Polydactyly, linked to mutations in the TTC21B gene, stands out due to its distinctive symptoms and implications. DNA Labs UAE offers a comprehensive genetic test for this condition, providing families and […]
DNA Labs UAE stands at the forefront of genetic testing and analysis, providing comprehensive services designed to unlock the mysteries of the genome. Among the myriad of tests offered, the DYNC2H1 Gene Short-Rib Thoracic Dysplasia Type 3 with or Without Polydactyly Genetic Test is a pivotal tool in diagnosing a rare and complex genetic disorder. […]
Symptoms of IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or Without Polydactyly Genetic Test Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly is a rare genetic disorder caused by mutations in the IFT80 gene. This condition is part of a group of diseases known as ciliopathies, which are disorders affecting the cilia, microscopic, […]
Short-Rib Thoracic Dysplasia Type 11 with or Without Polydactyly (SRPS11) is a rare genetic disorder that affects the development of the skeleton, particularly the ribs and long bones, and can also affect the development of the fingers and toes. This condition is part of a group of disorders known as ciliopathies, which are caused by […]
Understanding the genetic underpinnings of rare diseases is essential for diagnosis, management, and treatment. One such condition is Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly (SRTD10), which is caused by mutations in the IFT172 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the IFT172 Gene Short-Rib […]
Symptoms of PIK3R1 Gene Short Syndrome Genetic Test The PIK3R1 gene plays a critical role in the development and function of various cellular processes, including growth, signaling, and metabolism. Mutations in the PIK3R1 gene can lead to a spectrum of disorders, collectively known as PIK3R1 Gene Short Syndrome. This condition is characterized by a range […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
