Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the various genes associated with CdLS, mutations in the HDAC8 gene lead to a specific subtype known as Cornelia de Lange Syndrome […]
Osteology Diseases
Symptoms and Testing information for TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test
Symptoms of TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome The TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome is a complex genetic condition that affects various aspects of physical and cognitive development. This syndrome is characterized by a unique set of symptoms that can vary in severity among individuals. Recognizing […]
Symptoms and Testing information for FGFR2 Gene Craniofacial-Skeletal-Dermatologic Dysplasia Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of tests that aim to improve patient care through the early detection and management of genetic conditions. Among the various tests offered, the FGFR2 Gene Craniofacial-Skeletal-Dermatologic Dysplasia Genetic Test stands out for its importance in diagnosing a complex genetic disorder that […]
Symptoms and Testing information for FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans Genetic Test
Crouzon Syndrome with Acanthosis Nigricans is a rare genetic disorder that affects the development of the bones in the skull and face, leading to distinctive facial features and other physical abnormalities. This condition is caused by mutations in the FGFR3 gene, which plays a crucial role in bone development and maintenance. Understanding the symptoms of […]
Symptoms and Testing information for ATR Gene Cutaneous Telangiectasia and Cancer Syndrome Familial Genetic Test
In the realm of genetic diagnostics, DNA Labs UAE stands as a beacon of innovation and reliability, offering a suite of comprehensive genetic tests designed to unlock the mysteries of our genetic blueprint. Among the myriad of tests available, the ATR Gene Cutaneous Telangiectasia and Cancer Syndrome Familial Genetic Test is particularly noteworthy for its […]
Symptoms and Testing information for NLRC4 Gene Cold Autoinflammatory Syndrome Type 4 Familial Genetic Test
Symptoms of NLRC4 Gene Cold Autoinflammatory Syndrome Type 4 Familial Genetic Test Understanding the genetic underpinnings of rare diseases is crucial in the realm of personalized medicine. One such condition, Cold Autoinflammatory Syndrome Type 4, also known as NLRC4-Mediated Autoinflammatory Syndrome, is a rare genetic disorder that presents a unique set of challenges for those […]
Symptoms and Testing information for FBLN5 Gene Cutis Laxa Type 1A Autosomal Recessive Genetic Test
Cutis Laxa is a rare genetic condition characterized by the loosening and sagging of the skin, which can significantly affect the appearance and functionality of the skin and connective tissues. Among the types of Cutis Laxa, Type 1A, which is autosomal recessive, involves mutations in the FBLN5 gene. This condition not only impacts the skin […]
Symptoms and Testing information for ENPP1 Gene Cole Disease Genetic Test
Understanding ENPP1 Gene Cole Disease ENPP1 Gene Cole Disease is a rare genetic disorder that affects the body’s ability to properly utilize certain minerals and nutrients, leading to a range of health issues. This condition is caused by mutations in the ENPP1 gene, which plays a crucial role in the regulation of mineralization in the […]
Symptoms and Testing information for EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive Genetic Test
Symptoms of EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive Genetic Test Cutis Laxa is a rare genetic disorder characterized by the premature aging of the skin, leading to a lax, wrinkled appearance. The EFEMP2 gene, also known as FBLN4, has been identified as one of the causative genes for Cutis Laxa Type 1B, an […]
Symptoms and Testing information for P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test
Cole-Carpenter Syndrome Type 1 is a rare genetic disorder that presents a range of clinical symptoms, primarily affecting bone development and leading to other systemic complications. This syndrome is caused by mutations in the P4HB gene, which plays a crucial role in the proper folding and functioning of collagen and other proteins within the body. […]