Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate is a rare genetic disorder, significantly impacting those who are affected. This condition is characterized by abnormal bone growth, specifically in the metaphyses, which are the wide portions of the long bones near the joints. A key biochemical hallmark of this disorder is the increased excretion of […]
Symptoms of NLRP3 Gene Muckle-Wells Syndrome Genetic Test Muckle-Wells Syndrome (MWS) is a rare genetic disorder that falls under the umbrella of cryopyrin-associated periodic syndromes (CAPS). It is primarily characterized by recurrent episodes of fever, rash, and joint pain. These symptoms are a result of inflammation caused by mutations in the NLRP3 gene, which plays […]
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, […]
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 […]
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 […]
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 […]
Mal de Meleda is a rare genetic skin disorder, primarily characterized by inflammatory skin changes that begin in infancy or early childhood. This condition is caused by mutations in the SLURP1 gene, which plays a crucial role in the maintenance of healthy skin. Understanding the symptoms of Mal de Meleda is crucial for early diagnosis […]
— Understanding the symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type is crucial for early diagnosis and management. This rare genetic disorder, characterized by the presence of multiple pterygia (webs of skin) across various parts of the body, can lead to severe developmental issues and, in many cases, is lethal. The genetic test for […]
Malaria remains one of the world’s most devastating diseases, particularly in its cerebral form, which can lead to severe neurological damage and even death. Understanding the genetic factors that contribute to the susceptibility of individuals to cerebral malaria is a critical step in the fight against this disease. One such genetic factor is the ICAM1 […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services designed to provide insights into various genetic conditions. Among the many tests available, the CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test stands out due to its significance in diagnosing a rare and severe genetic disorder. […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
