Meckel Syndrome, a rare genetic disorder, has puzzled and challenged medical professionals for years. It falls under the category of ciliopathies, which are disorders related to the dysfunction of cilia, tiny hair-like structures on cell surfaces. Among the genes implicated in this complex syndrome is B9D1, associated with Type 9 Meckel Syndrome. Recognizing the symptoms […]
Nephrology Diseases
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 […]
Symptoms and Testing information for STAR Gene Lipoid Congenital Adrenal Hyperplasia Genetic Test
Lipoid Congenital Adrenal Hyperplasia (LCAH) is a rare, autosomal recessive disorder that significantly impacts the adrenal glands’ ability to produce vital hormones. The disorder is caused by mutations in the STAR gene, which plays a crucial role in the synthesis of all steroid hormones. Individuals with this condition often experience severe symptoms that can be […]
Symptoms and Testing information for APOE Gene Lipoprotein Glomerulopathy Genetic Test
— Symptoms of APOE Gene Lipoprotein Glomerulopathy Genetic Test Lipoprotein glomerulopathy is a rare genetic disorder that affects the kidneys. It is caused by mutations in the APOE gene, which plays a crucial role in the metabolism of fats in the body. Individuals with this condition often experience symptoms related to kidney dysfunction, which can […]
Symptoms and Testing information for TRMU Gene Liver Failure Transient Infantile Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive suite of tests designed to provide critical insights into various genetic disorders. Among these, the TRMU Gene Liver Failure Transient Infantile Genetic Test stands out for its importance in diagnosing a rare but potentially severe condition affecting infants. This test, priced at […]
Symptoms and Testing information for OCRL Gene Lowe Oculocerebrorenal Syndrome Genetic Test
Symptoms of OCRL Gene Lowe Oculocerebrorenal Syndrome Genetic Test Lowe Oculocerebrorenal Syndrome, also known as OCRL, is a rare genetic disorder that predominantly affects the eyes, brain, and kidneys. This condition, which primarily affects males, is caused by mutations in the OCRL gene. Recognizing the symptoms early on can lead to timely intervention and management, […]