Nephronophthisis (NPHP) is a genetic disorder that affects the kidneys, leading to their progressive dysfunction. It is the most common genetic cause of end-stage renal disease (ESRD) in children and young adults. Among the various types of NPHP, Type 14, caused by mutations in the ZNF423 gene, is a significant concern due to its autosomal […]
Nephrology Diseases
Symptoms and Testing information for CEP164 Gene Nephronophthisis Type 15 Genetic Test
Nephronophthisis (NPHP) is a genetically heterogeneous group of chronic kidney disorders, classified as a form of ciliopathy. The condition primarily affects the kidneys, leading to fibrosis and kidney failure, typically by adolescence or early adulthood. Among the various genes implicated in NPHP, CEP164 plays a crucial role in the development of Nephronophthisis type 15, a […]
Symptoms and Testing information for ANKS6 Gene Nephronophthisis Type 16 Genetic Test
Nephronophthisis is a genetically heterogeneous disorder that primarily affects the kidneys. It is characterized by the inflammation and scarring of the kidney tissue, leading to a progressive loss of kidney function over time. Among the genes associated with this condition, ANKS6 is one of the critical genes implicated in the development of Nephronophthisis Type 16, […]
Symptoms and Testing information for DCDC2 Gene Nephronophthisis Type 19 Genetic Test
Nephronophthisis (NPHP) is a genetically and clinically heterogeneous disorder that represents one of the primary causes of chronic kidney disease in children and young adults. Among the various types, Nephronophthisis Type 19, caused by mutations in the DCDC2 gene, is a rare but significant condition that deserves attention. DNA Labs UAE is at the forefront […]
Symptoms and Testing information for INVS Gene Nephronophthisis Type 2 Genetic Test
Nephronophthisis Type 2, caused by mutations in the INVS gene, is a rare genetic disorder that primarily affects the kidneys. This condition is part of a group of diseases known as ciliopathies, which are characterized by abnormalities in the function or structure of cellular cilia. Cilia are microscopic, hair-like structures on the surface of cells […]
Symptoms and Testing information for SEMA3A Gene Kallmann Syndrome SEMA3A Related Genetic Test
Kallmann Syndrome is a rare genetic condition that affects 1 in 30,000 to 1 in 120,000 people. It is characterized by the combination of hypogonadotropic hypogonadism (HH), a condition affecting the production of hormones responsible for puberty, and anosmia or hyposmia, a reduced or complete lack of sense of smell. A specific gene associated with […]
Symptoms and Testing information for UMOD Gene Medullary Cystic Kidney Disease Type 2 Genetic Test
Medullary Cystic Kidney Disease Type 2 (MCKD2) is a rare genetic disorder that affects the kidneys. It is characterized by the formation of cysts in the center of the kidneys, which can lead to a gradual loss of kidney function over time. This disease is caused by mutations in the UMOD gene, which plays a […]
Symptoms and Testing information for GHR Gene Laron Syndrome Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help individuals understand their genetic makeup and identify any potential health risks. One of the specialized tests we offer is the GHR Gene Laron Syndrome Genetic Test. This test is designed to detect mutations in the GHR gene, which are associated […]
Symptoms and Testing information for SCNN1B Gene Liddle Syndrome Genetic Test
In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of specific genetic conditions is paramount for effective treatment and management. One such condition that has garnered attention within the medical community is Liddle Syndrome, a rare autosomal dominant disorder affecting the body’s blood pressure regulation. Central to this condition is the SCNN1B […]
Symptoms and Testing information for SCNN1G Gene Liddle Syndrome Genetic Test
— Liddle syndrome is a rare autosomal dominant disorder that affects the body’s electrolyte balance, leading to high blood pressure, low potassium levels, and metabolic alkalosis. This condition is caused by mutations in the SCNN1G gene, among others, which encode the gamma subunit of the epithelial sodium channel (ENaC) in the kidneys. The ENaC plays […]