Majeed Syndrome is a rare genetic disorder that primarily affects the bones, skin, and inflammatory system of the body. This condition is caused by mutations in the LPIN2 gene, which plays a crucial role in the body’s metabolic processes and immune response. Individuals with Majeed Syndrome often experience a range of symptoms from early childhood, […]
Osteology Diseases
Symptoms and Testing information for MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome Genetic Test
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare genetic disorder characterized by progressive destruction of the carpal and tarsal bones – the bones of the wrists and ankles, respectively. This condition often begins in early childhood and can lead to various symptoms and complications if left undiagnosed or untreated. The MAFB gene has been identified […]
Symptoms and Testing information for MR1 Gene Major Histocompatibility Comples 1 Deficiency Genetic Test
Understanding the symptoms and importance of testing for MR1 Gene Major Histocompatibility Complex 1 (MHC 1) deficiency is crucial for early detection and management of this genetic condition. DNA Labs UAE offers a comprehensive genetic test for this deficiency, providing essential information for affected individuals and their families. Symptoms of MR1 Gene Major Histocompatibility Complex […]
Symptoms and Testing information for MMP2 Gene Multicentric Osteolysis Nodulosis and Arthropathy Genetic Test
In the realm of medical genetics, the understanding and diagnosis of rare diseases have seen significant advancements, thanks to the evolution of genetic testing. Among these, the MMP2 Gene Multicentric Osteolysis Nodulosis and Arthropathy (MONA) Genetic Test stands out for its importance in diagnosing a rare condition that affects bones and joints. This article aims […]
Symptoms and Testing information for FERMT1 Gene Kindler Syndrome Genetic Test
Symptoms of FERMT1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin primarily, but can also have systemic implications. It is caused by mutations in the FERMT1 gene, which plays a crucial role in the connection between cells and their surrounding extracellular matrix. This connection is vital for […]
Symptoms and Testing information for LAMA3 Gene Laryngoonychocutaneous Syndrome Genetic Test
Laryngoonychocutaneous syndrome is a rare genetic disorder that affects various parts of the body, including the larynx (voice box), nails, and skin. This condition is caused by mutations in the LAMA3 gene, which plays a crucial role in the development and maintenance of these tissues. Recognizing the symptoms of this syndrome early on can be […]
Symptoms and Testing information for COL2A1 Gene Legg-Calve-Perthes Disease Genetic Test
Legg-Calve-Perthes Disease (LCPD) is a rare condition that affects the hip joint in children. It occurs when blood supply to the femoral head (the ball part of the hip) is temporarily disrupted, causing the bone to die. This can lead to pain, stiffness, and eventually, joint deformity. Understanding the genetic underpinnings of this disease, particularly […]
Symptoms and Testing information for SPRED1 Gene Legius Syndrome Genetic Test
Legius syndrome, also known as SPRED1 syndrome, is a rare genetic condition that is often mistaken for Neurofibromatosis type 1 (NF1) due to the overlap in symptoms. It is caused by mutations in the SPRED1 gene, which plays a crucial role in the regulation of cell growth and differentiation. Understanding the symptoms of Legius syndrome […]
Symptoms and Testing information for FERMT3 Gene Leukocyte Adhesion Deficiency Type 3 Genetic Test
Leukocyte adhesion deficiency type 3 (LAD3) is a rare genetic disorder that affects the immune system’s ability to function properly. It is caused by mutations in the FERMT3 gene, which plays a crucial role in the process of leukocytes (white blood cells) adhering to the blood vessel walls. This adhesion is essential for the immune […]
Symptoms and Testing information for LIG4 Gene LIG4 Syndrome Genetic Test
In the realm of genetic research and diagnostics, the understanding and identification of rare genetic disorders have significantly improved the lives of those affected. Among these, LIG4 Syndrome is a rare autosomal recessive disorder that has garnered attention for its complex symptoms and the critical need for accurate diagnosis. DNA Labs UAE stands at the […]