ERCC4 Gene XFE Progeroid Syndrome is a rare genetic condition that has garnered significant attention in the medical community due to its complex presentation and the implications it has on those affected and their families. At DNA Labs UAE, we are dedicated to providing comprehensive testing and support for individuals who may be at risk […]
Osteology Diseases
Symptoms and Testing information for LORICRIN Gene Vohwinkel Syndrome with Ichthyosis Genetic Test
— Vohwinkel Syndrome with Ichthyosis is a rare genetic disorder caused by mutations in the LORICRIN gene. This condition is characterized by a unique set of symptoms that significantly impact the skin’s appearance and function. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a crucial tool for accurate diagnosis and management. […]
Symptoms and Testing information for PAX3 Gene Waardenburg Syndrome Type 1 Genetic Test
Understanding Waardenburg Syndrome Type 1 and the Role of PAX3 Gene Waardenburg Syndrome Type 1 is a rare genetic disorder that affects the development of several body systems, most notably the pigmentation of the skin, hair, and eyes, and the function of the inner ear. This condition is caused by mutations in the PAX3 gene, […]
Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 2E Genetic Test
Waardenburg Syndrome is a rare genetic disorder characterized by distinctive facial features, varying degrees of hearing loss, and pigmentation anomalies of the hair, skin, and eyes. Among the several types of Waardenburg Syndrome, Type 2E, associated with mutations in the SOX10 gene, is notable for its complex manifestations, which may also affect the neurological and […]
Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test
Waardenburg Syndrome Type 4C, also known as Waardenburg-Shah syndrome, is a rare genetic disorder characterized by a combination of hearing loss, changes in coloring (pigmentation) of the skin, hair, and eyes, and Hirschsprung disease, a condition that causes blockages in the large intestine. This syndrome is caused by mutations in the SOX10 gene, which plays […]
Symptoms and Testing information for CXCR4 Gene WHIM Syndrome Genetic Test
At DNA Labs UAE, we are committed to providing our clients with comprehensive genetic testing services to identify a range of genetic conditions, including the CXCR4 Gene WHIM Syndrome. WHIM syndrome is a rare genetic disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. This article aims to provide detailed information on the symptoms of CXCR4 […]
Symptoms and Testing information for MMP14 Gene Winchester Syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing and analysis, providing a comprehensive range of services designed to unlock the secrets held within our DNA. Among the myriad of genetic conditions that DNA Labs UAE can test for, Winchester Syndrome stands out due to its rarity and the impact it has on those […]
Symptoms and Testing information for EIF2AK3 Gene Wolcott-Rallison Syndrome Genetic Test
Wolcott-Rallison Syndrome (WRS) is a rare genetic disorder primarily characterized by early-onset diabetes, usually diagnosed within the first six months of life, and multiple epiphyseal dysplasia, leading to skeletal abnormalities. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, […]
Symptoms and Testing information for ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test
Wrinkly Skin Syndrome, known scientifically as Cutis Laxa, is a rare genetic disorder that affects the connective tissue in the body. One of the genes associated with this condition is ATP6V0A2. Mutations in the ATP6V0A2 gene can lead to a variety of symptoms that significantly impact the individual’s quality of life. Recognizing these symptoms early […]
Symptoms and Testing information for XPA Gene Xeroderma Pigmentosum Group A Genetic Test
Xeroderma Pigmentosum (XP) is a rare genetic disorder that affects the skin, eyes, and, in some cases, the nervous system. Group A (XPA) is one of the most severe forms of this condition, caused by mutations in the XPA gene. This gene plays a crucial role in nucleotide excision repair (NER), a mechanism that repairs […]