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 […]
Dysmorphology Diseases
Symptoms and Testing information for IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or Without Polydactyly Genetic Test
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, […]
Symptoms and Testing information for FOXP2 Gene Speech-Language Disorder Type 1 Genetic Test
Symptoms of FOXP2 Gene Speech-Language Disorder Type 1 Genetic Test FOXP2 Gene Speech-Language Disorder Type 1 is a condition that affects the neurological development of language and speech capabilities in individuals. This disorder is often identified in early childhood as children start to exhibit significant difficulties in acquiring basic linguistic skills. The FOXP2 gene, a […]
Symptoms and Testing information for DYNC2H1 Gene Short-Rib Thoracic Dysplasia Type 3 with or Without Polydactyly Genetic Test
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 and Testing information for MTRR Gene Spina Bifida Folate Sensitive Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of services designed to provide individuals with valuable insights into their genetic makeup. Among the various tests offered, the MTRR Gene Spina Bifida Folate Sensitive Genetic Test stands out for its importance in assessing the risk of spina bifida, a condition […]
Symptoms and Testing information for TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 with or Without Polydactyly Genetic Test
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 […]
Symptoms and Testing information for WDR19 Gene Short-Rib Thoracic Dysplasia Type 5 with or Without Polydactyly Genetic Test
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 […]
Symptoms and Testing information for NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or Without Polydactyly Genetic Test
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 […]
Symptoms and Testing information for WDR35 Gene Short-Rib Thoracic Dysplasia Type 7 with or Without Polydactyly Genetic Test
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 and Testing information for WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 with or Without Polydactyly Genetic Test
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 […]