Acromegaly is a rare hormonal disorder that results from an excess of growth hormone (GH) in the body, often caused by a benign tumor on the pituitary gland. This condition can lead to abnormal growth and size of the hands, feet, and facial features. In some cases, the cause of acromegaly is linked to genetic […]
Nephrology Diseases
Symptoms and Testing information for CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test
Adrenal insufficiency congenital, coupled with 46XY sex reversal, partial or complete, is a rare and complex genetic condition that can significantly impact an individual’s health and development. This condition is primarily caused by mutations in the CYP11A1 gene, which plays a crucial role in the production of steroid hormones in the body. These hormones are […]
Symptoms and Testing information for TBX19 Gene Adrenocorticotropic Hormone Deficiency Genetic Test
Adrenocorticotropic Hormone (ACTH) deficiency is a rare condition that can have significant impacts on an individual’s health. The TBX19 gene plays a crucial role in the development and function of the pituitary gland, which in turn influences the production of ACTH. This hormone is essential for regulating the adrenal glands and maintaining the body’s cortisol […]
Symptoms and Testing information for COL4A3 Gene Alport Syndrome Autosomal Recessive Genetic Test
Alport Syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It primarily affects the basement membranes of the kidneys, ears, and eyes, leading to progressive loss of kidney function and other related symptoms. This condition can be inherited in an autosomal recessive manner, which means that an individual must inherit […]
Symptoms and Testing information for COL4A4 Gene Alport Syndrome Autosomal Recessive Genetic Test
Alport Syndrome is a genetic disorder that primarily affects the kidneys, leading to chronic kidney disease and, eventually, kidney failure. It also can impact the eyes and the inner ear, potentially leading to vision and hearing loss. The condition is caused by mutations in genes that are essential for the production of a specific type […]
Symptoms and Testing information for COL4A5 Gene Alport Syndrome X-Linked Genetic Test
Alport Syndrome is a genetic disorder that primarily affects the kidney, leading to progressive loss of kidney function, and can also impact the eyes and the inner ear. The condition is caused by mutations in the genes that produce type IV collagen, a crucial component for the normal functioning of the glomeruli in the kidneys. […]
Symptoms and Testing information for AR Gene Androgen Insensitivity Genetic Test
Androgen insensitivity syndrome (AIS) is a genetic condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. However, their bodies are unable to respond properly to male sex hormones (androgens). This can lead to the development of […]
Symptoms and Testing information for AR Gene Androgen Insensitivity Partial with or without Breast Cancer Genetic Test
Androgen Insensitivity Syndrome (AIS) is a condition that affects sexual development before birth and during puberty. It is caused by mutations in the AR gene, which is essential for directing male sexual development. This condition is part of a spectrum, with partial androgen insensitivity syndrome (PAIS) being one of its forms. PAIS can result in […]
Symptoms and Testing information for SHBG Gene Androgen-Binding Protein Deficiency Genetic Test
DNA Labs UAE is a premier genetic testing facility dedicated to providing accurate, comprehensive, and confidential genetic testing services. One of the critical tests offered by DNA Labs UAE is the SHBG Gene Androgen-Binding Protein Deficiency Genetic Test. This test is essential for individuals experiencing symptoms that may indicate a deficiency in the Sex Hormone […]
Symptoms and Testing information for Atypical Hemolytic Uremic Syndrome Panel NGS Genetic Test
Atypical Hemolytic Uremic Syndrome (aHUS) is a rare, genetic, life-threatening condition characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Unlike typical HUS, which is often triggered by an infection, aHUS results from genetic mutations that cause chronic, uncontrolled activation of the complement system, leading to damage to the endothelial cells […]