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Osteology Diseases
Symptoms and Testing information for SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test
Trichohepatoenteric syndrome type 2, a rare genetic condition, is caused by mutations in the SKIV2L gene. This syndrome presents a variety of symptoms that can significantly impact the health and development of affected individuals. DNA Labs UAE offers a comprehensive genetic test for this condition, helping families identify the syndrome early and manage its symptoms […]
Symptoms and Testing information for RAG1 Gene Severe Combined Immunodeficiency B Cell-Negative Genetic Test
In the realm of genetic diagnostics, the identification and understanding of specific gene mutations that lead to severe combined immunodeficiency (SCID) is crucial for early intervention and treatment. Among these genetic anomalies, mutations in the RAG1 gene stand out for their significant impact on the immune system, leading to a specific form of SCID characterized […]
Symptoms and Testing information for KRT17 Gene Steatocystoma Multiplex Genetic Test
Steatocystoma Multiplex is a rare skin disorder characterized by the development of multiple, non-cancerous cysts known as steatocysts. These cysts primarily affect the sebaceous glands, which are responsible for producing the skin’s oils. The condition is often inherited in an autosomal dominant pattern and has been linked to mutations in the KRT17 gene. Understanding the […]
Symptoms and Testing information for PTPRC Gene Severe Combined Immunodeficiency T Cell-Negative B-Cell Natural Killer Cell-Positive Genetic Test
Severe Combined Immunodeficiency (SCID) is a rare but serious genetic disorder that affects the immune system, making individuals highly susceptible to infections. One specific form of this condition is characterized by the absence of T cells, but the presence of B cells and natural killer (NK) cells, linked to mutations in the PTPRC gene. This […]
Symptoms and Testing information for FBN1 Gene Stiff Skin Syndrome Genetic Test
Stiff Skin Syndrome (SSS) is a rare, genetic disorder characterized by hard, thick skin that covers large areas of the body. This condition, often present from birth or early childhood, restricts movement and leads to a range of health complications. The primary gene associated with Stiff Skin Syndrome is the FBN1 gene, which plays a […]
Symptoms and Testing information for IL7R Gene Severe Combined Immunodeficiency T-Cell Negative B-Cell Natural Killer Cell-Positive Type Genetic Test
Severe Combined Immunodeficiency (SCID) is a rare genetic disorder that devastates the immune system, leaving individuals highly susceptible to infections. Among its various types, the IL7R gene-related SCID, characterized by T-cell negative, B-cell positive, and Natural Killer (NK) cell-positive profiles, presents unique challenges and symptoms. DNA Labs UAE offers a comprehensive genetic test for this […]
Symptoms and Testing information for DNASE1 Gene Systemic Lupus Erythematosus Genetic Test
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can affect various parts of the body, including the skin, joints, kidneys, heart, lungs, blood vessels, and brain. The DNASE1 gene plays a crucial role in the pathogenesis of SLE. Mutations in the DNASE1 gene can lead to the development of SLE by affecting the […]
