Blogs

Nail-Patella Syndrome (NPS) is a rare genetic disorder that affects various parts of the body, including nails, bones, kidneys, and eyes. It is primarily characterized by poorly developed fingernails, toenails, and patellae (kneecaps), among other clinical manifestations. This condition is caused by mutations in the LMX1B gene, which plays a crucial role in limb development […]

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare genetic disorder that affects the skin, teeth, and sweat glands. It is caused by mutations in the KRT14 gene, which plays a crucial role in the development and maintenance of skin cells and other keratinized tissues. Individuals with NFJ syndrome may experience a variety of symptoms, making it important […]

Understanding the complexities of genetic conditions is crucial for early detection, treatment, and management. One such rare genetic condition that has garnered attention is the Atypical Familial Disseminated Mycobacterial Infection, specifically linked to mutations in the IFNGR1 gene. This condition, while rare, poses significant health risks to individuals, making it imperative to have accurate diagnostic […]

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. […]

— 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 […]

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 […]

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 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 […]

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 […]

Metaphyseal Chondrodysplasia, Schmid type (MCDS), is a rare genetic disorder characterized by short stature, bowed legs, and other skeletal abnormalities. This condition is primarily caused by mutations in the COL10A1 gene, which plays a crucial role in bone development. Understanding the symptoms of MCDS and the significance of genetic testing can provide valuable insights for […]