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 […]
Osteology Diseases
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 IL2RA Gene Interleukin 2 Receptor Deficiency Genetic Test
Symptoms of IL2RA Gene Interleukin 2 Receptor Deficiency Genetic Test The IL2RA gene plays a crucial role in the immune system by encoding the alpha chain of the interleukin-2 receptor (IL-2Rα), which is essential for the activation and proliferation of lymphocytes, key players in our body’s defense mechanism. A deficiency in the IL2RA gene can […]
Symptoms and Testing information for RORC Gene Immunodeficiency Type 42 Genetic Test
Symptoms of RORC Gene Immunodeficiency Type 42 Genetic Test The RORC gene plays a crucial role in the immune system, particularly in the development and function of several types of immune cells, including T cells and innate lymphoid cells. Mutations in the RORC gene can lead to a form of primary immunodeficiency known as Immunodeficiency […]
Symptoms and Testing information for ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenita Genetic Test
Symptoms of ITGA3 Gene Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Congenita The ITGA3 gene plays a crucial role in the proper development and functioning of various organs in the human body, including the skin, lungs, and kidneys. Mutations in the ITGA3 gene can lead to a complex spectrum of diseases, including Interstitial Lung […]
Symptoms and Testing information for UNG Gene Immunodeficiency Type 5 with Hyper IgM Genetic Test
Understanding the intricate nature of genetic conditions is pivotal for both medical professionals and patients. One such condition that has garnered attention in recent years is UNG Gene Immunodeficiency Type 5 with Hyper IgM. This condition, though rare, presents a unique set of symptoms and challenges that are crucial for affected individuals and their families […]
Symptoms and Testing information for IRAK4 Gene Invasive Pneumococcal Disease Recurrent Isolated Type 1 Genetic Test
In the realm of genetic testing and personalized medicine, understanding the nuances of specific genes and their impact on health has never been more critical. One such area of focus is the IRAK4 gene and its association with Invasive Pneumococcal Disease (IPD) Recurrent Isolated Type 1. This genetic condition, although rare, can have significant implications […]
Symptoms and Testing information for CORO1A Gene Immunodeficiency Type 8 Genetic Test
Understanding the symptoms of CORO1A Gene Immunodeficiency Type 8 is crucial for early diagnosis and management of this rare genetic disorder. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the CORO1A Gene Immunodeficiency Type 8 Genetic Test, to help individuals and families navigate the complexities of genetic health. This […]