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 […]
Dysmorphology Diseases
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, […]
Symptoms and Testing information for RBM10 Gene Tarp Syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of services designed to provide insights into your genetic makeup. Among these, the RBM10 Gene TARP Syndrome Genetic Test is a critical tool for diagnosing TARP Syndrome, a rare genetic condition. This test is not only pivotal for early diagnosis but […]
Symptoms and Testing information for Maternal UPD Chr. 14 Gene Temple Syndrome Genetic Test
Symptoms of Maternal UPD Chr. 14 Gene Temple Syndrome Genetic Test Maternal Uniparental Disomy of Chromosome 14 (matUPD(14)) is a rare genetic condition, often associated with a constellation of physical and developmental symptoms known as Temple Syndrome. This condition arises when a child inherits two copies of chromosome 14 from the mother and none from […]
Symptoms and Testing information for KCNH1 Gene Temple-Baraitser Syndrome Genetic Test
In the realm of genetic diagnostics, the advancement of technology has paved the way for the identification and understanding of rare genetic conditions that were once shrouded in mystery. Among these conditions is Temple-Baraitser Syndrome (TBS), a rare genetic disorder that has been linked to mutations in the KCNH1 gene. At DNA Labs UAE, we […]
Symptoms and Testing information for CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test
Understanding the genetic underpinnings of various conditions is pivotal in the realm of medical science, and this is particularly true for rare syndromes such as Temtamy preaxial brachydactyly syndrome, which is linked to mutations in the CHSY1 gene. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive analyses to uncover the mysteries […]
Symptoms and Testing information for DLX5 Gene Split-Handfoot Malformation Type 1 with Sensorineural Hearing Loss Genetic Test
Split-hand/foot malformation type 1 (SHFM1), also known as ectrodactyly, is a rare genetic disorder characterized by the malformation of the hands and feet. This condition can vary greatly in severity and can involve the absence of certain fingers or toes, syndactyly (fusion of digits), or the formation of a deep median cleft. When SHFM1 is […]