Kallmann Syndrome (KS) is a rare genetic condition characterized by the combination of delayed or absent puberty and an impaired sense of smell (anosmia). This condition falls under the umbrella of hypogonadotropic hypogonadism, where the body’s production of sex hormones is insufficient due to a lack of signals from the brain. One of the genes […]
Nephrology Diseases
Symptoms and Testing information for TCTN2 Gene Meckel Syndrome Type 8 Genetic Test
Understanding the genetic underpinnings of rare diseases is crucial for early diagnosis and intervention. One such rare genetic disorder is Meckel Syndrome Type 8, which is associated with mutations in the TCTN2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the TCTN2 Gene Meckel Syndrome Type 8 Genetic […]
Symptoms and Testing information for PROK2 Gene Kallmann Syndrome Type 4 Genetic Test
### Article Content: Kallmann Syndrome Type 4 is a rare genetic disorder characterized by a combination of delayed or absent puberty and an impaired sense of smell. This condition is caused by mutations in the PROK2 gene, which plays a crucial role in the development of the reproductive and olfactory systems. Understanding the symptoms and […]
Symptoms and Testing information for B9D1 Gene Meckel Syndrome Type 9 Genetic Test
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 […]
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 […]