Understanding Temtamy Syndrome: A Genetic Overview Temtamy syndrome, a rare genetic disorder, has garnered significant attention within the medical community due to its unique set of symptoms and genetic origins. At DNA Labs UAE, we specialize in providing comprehensive genetic testing services, including the C12orf57 Gene Temtamy Syndrome Genetic Test, to help individuals and families […]
Dysmorphology Diseases
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 […]
Symptoms and Testing information for SKI Gene Shprintzen-Goldberg Syndrome Genetic Test
Shprintzen-Goldberg Syndrome (SGS) is a rare genetic disorder that affects multiple organ systems. It is characterized by craniosynostosis (premature fusion of skull bones), distinctive facial features, skeletal abnormalities, and intellectual disability. The syndrome is caused by mutations in the SKI gene, which plays a crucial role in regulating cellular growth and development. Understanding the symptoms […]
Symptoms and Testing information for Chr. 11p15 Gene Silver-Russell Syndrome Genetic Test
Understanding Chr. 11p15 Gene Silver-Russell Syndrome Silver-Russell Syndrome (SRS) is a rare congenital disorder, characterized by growth restriction before birth, leading to low birth weight and subsequent growth problems after birth. This condition is also associated with distinctive facial features, asymmetry of body parts, and other developmental anomalies. A crucial factor in diagnosing this syndrome […]
Symptoms and Testing information for Maternal UPD Chr. 7 Gene Silver-Russell Syndrome Genetic Test
In the realm of genetic diagnostics and family health, understanding the implications of certain genetic conditions is paramount for early intervention and treatment. Among these conditions, Silver-Russell Syndrome (SRS) stands out due to its distinctive features and the unique genetic mechanisms behind its occurrence. At DNA Labs UAE, we are committed to providing comprehensive genetic […]
Symptoms and Testing information for CBFB Gene Skeletal Abnormalities CBFB Related Genetic Test
In the realm of genetic diagnostics, understanding the intricate details of our DNA can unlock answers to many health-related questions, including the predisposition to certain conditions. Among these, skeletal abnormalities associated with the CBFB gene represent a critical area of study. At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to detect […]
Symptoms and Testing information for ZBTB16 Gene Skeletal Defects Genital Hypoplasia and Mental Retardation Genetic Test
Symptoms of ZBTB16 Gene Skeletal Defects, Genital Hypoplasia, and Mental Retardation Understanding the complex nature of genetic disorders is crucial for early diagnosis and treatment. One such genetic condition involves mutations in the ZBTB16 gene, which can lead to a constellation of symptoms including skeletal defects, genital hypoplasia, and mental retardation. Recognizing these symptoms early […]