Symptoms and Testing information for SRCAP Gene Floating-Harbor syndrome Genetic Test

Symptoms and Testing information for SRCAP Gene Floating-Harbor syndrome Genetic Test

Floating-Harbor syndrome is a rare genetic disorder characterized by a variety of symptoms and physical features. This condition, which affects individuals from birth, is often diagnosed through genetic testing, specifically targeting the SRCAP gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the SRCAP Gene Floating-Harbor Syndrome Genetic Test. […]

Symptoms and Testing information for PORCN Gene Focal dermal hypoplasia Genetic Test

Symptoms and Testing information for PORCN Gene Focal dermal hypoplasia Genetic Test

Focal Dermal Hypoplasia, also known as Goltz Syndrome, is a rare genetic disorder that affects multiple body systems. This condition is primarily characterized by abnormalities in the development of the skin, skeleton, eyes, and occasionally other areas. The PORCN gene plays a critical role in the development of these tissues, and mutations in this gene […]

Symptoms and Testing information for SH3PXD2B Gene Frank-ter Haar syndrome Genetic Test

Symptoms and Testing information for SH3PXD2B Gene Frank-ter Haar syndrome Genetic Test

Frank-ter Haar syndrome is a rare genetic disorder that presents a variety of symptoms and challenges for those affected by it. This syndrome is caused by mutations in the SH3PXD2B gene, which plays a crucial role in the development and maintenance of bone, heart, and eye tissues. Recognizing the symptoms early on can lead to […]

Symptoms and Testing information for ADAMTSL2 Gene Geleophysic dysplasia type 1 Genetic Test

Symptoms and Testing information for ADAMTSL2 Gene Geleophysic dysplasia type 1 Genetic Test

Geleophysic dysplasia type 1 is a rare genetic disorder that affects various parts of the body, including the skeleton, heart, and facial features. This condition is caused by mutations in the ADAMTSL2 gene, which plays a crucial role in the development and maintenance of connective tissue. Recognizing the symptoms early on can significantly impact the […]

Symptoms and Testing information for DSG1 Gene Erythroderma congenital with palmoplantar keratoderma hypotrichosis and hyper IgE Genetic Test

Symptoms and Testing information for DSG1 Gene Erythroderma congenital with palmoplantar keratoderma hypotrichosis and hyper IgE Genetic Test

Symptoms of DSG1 Gene Erythroderma Congenital with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE The DSG1 gene plays a critical role in the proper functioning and structure of the skin. Mutations in this gene can lead to a rare and complex condition characterized by a constellation of symptoms, including erythroderma congenital, palmoplantar keratoderma, hypotrichosis, and elevated […]

Symptoms and Testing information for GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test

Symptoms and Testing information for GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test

Erythrokeratodermia Variabilis et Progressiva (EKVP) is a rare genetic skin disorder characterized by the appearance of well-demarcated, erythematous patches and hyperkeratosis. This condition is caused by mutations in the GJB3 gene, which encodes for connexin 31, a protein crucial for cell communication in the skin. Understanding the symptoms of this condition is essential for early […]

Symptoms and Testing information for GJB4 Gene Erythrokeratodermia variabilis et progressive Genetic Test

Symptoms and Testing information for GJB4 Gene Erythrokeratodermia variabilis et progressive Genetic Test

Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder characterized by the presence of both fixed, persistent erythrokeratoderma and transient erythematous patches. This condition is caused by mutations in the GJB4 gene, which encodes a protein known as connexin 30.3, playing a crucial role in the communication between skin cells. Recognizing the symptoms […]

Symptoms and Testing information for COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis Genetic Test

Symptoms and Testing information for COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis Genetic Test

Understanding the COX4I2 Gene and Its Implications Genetic testing has become a cornerstone in the field of medical diagnostics, offering insights into inherited conditions and paving the way for tailored treatments. Among the various tests available, the COX4I2 Gene Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis Genetic Test stands out due to its focus […]

Symptoms and Testing information for LAMC2 Gene Epidermolysis bullosa junctional Genetic Test

Symptoms and Testing information for LAMC2 Gene Epidermolysis bullosa junctional Genetic Test

Symptoms of LAMC2 Gene Epidermolysis Bullosa Junctional Genetic Test Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The skin blisters may appear in response to minor injury, even from heat, rubbing, or scratching. Among the various types of EB, Junctional Epidermolysis Bullosa (JEB) is a severe form that not […]

Symptoms and Testing information for EXT1 Gene Exostoses multiple type 1 Genetic Test

Symptoms and Testing information for EXT1 Gene Exostoses multiple type 1 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, providing a wide range of services designed to offer insights into your genetic makeup and potential health risks. One such test that has garnered significant attention is the EXT1 Gene Exostoses Multiple Type 1 Genetic Test. This test is crucial for individuals who […]

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