Pseudohypoparathyroidism type 1C (PHP1C) is a rare genetic disorder that is part of a group of conditions known as pseudohypoparathyroidism. These conditions are characterized by the body’s resistance to parathyroid hormone (PTH), which is crucial for maintaining a balanced calcium and phosphate level in the blood. The GNAS gene, responsible for this condition, plays a […]
Nephrology Diseases
Symptoms and Testing information for GNAS Gene Pseudopseudohypoparathyroidism Genetic Test
Pseudopseudohypoparathyroidism is a rare genetic disorder, which involves an abnormality in the GNAS gene. This condition mimics the symptoms of hypoparathyroidism, yet the calcium and phosphorous levels in the blood remain normal. Understanding the symptoms and undergoing genetic testing can be crucial for diagnosis and management. DNA Labs UAE offers a comprehensive GNAS Gene Pseudopseudohypoparathyroidism […]
Symptoms and Testing information for BICC1 Gene Renal cystic dysplasia cystic susceptibility to Genetic Test
Renal cystic dysplasia, a form of kidney malformation, is a condition that can significantly impact an individual’s health and quality of life. Advances in genetic testing have paved the way for early diagnosis and intervention, offering hope to those at risk. DNA Labs UAE is at the forefront of these advancements, providing comprehensive genetic testing […]
Symptoms and Testing information for SLC26A1 Gene Renal dysfunction due to SLC26A1 deficiency Genetic Test
In the realm of genetic diagnostics, the understanding of how specific gene mutations can lead to complex health issues has transformed the approach to treatment and management of various diseases. One such condition that has garnered attention is renal dysfunction caused by SLC26A1 deficiency. This article delves into the symptoms associated with this condition and […]
Symptoms and Testing information for SLC5A2 Gene Renal glucosuria Genetic Test
Renal glucosuria, a condition characterized by the presence of glucose in the urine despite normal blood glucose levels, is primarily caused by mutations in the SLC5A2 gene. This condition is an indication of an abnormal reabsorption of glucose in the kidneys. Understanding the symptoms of SLC5A2 gene renal glucosuria and getting a genetic test can […]
Symptoms and Testing information for LHCGR Gene Precocious Puberty Male Genetic Test
Symptoms of LHCGR Gene Precocious Puberty in Males Precocious puberty refers to the unusually early onset of puberty. Typically, puberty begins between the ages of 8 and 13 in girls and between 9 and 14 in boys. However, in cases of precocious puberty, these developmental changes start much earlier, sometimes as young as 7 in […]
Symptoms and Testing information for FMR1 Gene Premature Ovarian Failure Type 1 Genetic Test
Symptoms of FMR1 Gene Premature Ovarian Failure Type 1 Genetic Test Premature Ovarian Failure (POF), also known as Primary Ovarian Insufficiency (POI), is a significant health concern affecting women’s reproductive health globally. It is characterized by the loss of normal ovarian function before the age of 40. Among the various factors contributing to this condition, […]
Symptoms and Testing information for PRSS2 Gene Pancreatitis Chronic Protection Against Genetic Test
Pancreatitis is a condition characterized by the inflammation of the pancreas, which can either be acute or chronic. While the causes of pancreatitis can vary, ranging from alcohol consumption to gallstones, a significant advancement in medical science has been the discovery of genetic predispositions to this condition. Among these genetic markers, the PRSS2 gene plays […]
Symptoms and Testing information for CACNA1D Gene Primary Aldosteronism Seizures and Neurologic Abnormalities Genetic Test
Primary aldosteronism, also known as Conn’s syndrome, is a condition characterized by the overproduction of aldosterone, a hormone responsible for regulating sodium and potassium levels in the blood. This condition can lead to a variety of health issues, including high blood pressure, muscle weakness, and severe electrolyte imbalances. Recent advancements in genetics have identified mutations […]
Symptoms and Testing information for SOX3 Gene Panhypopituitarism X-Linked Genetic Test
Panhypopituitarism is a rare condition characterized by the decreased secretion of most or all of the hormones produced by the pituitary gland. When this condition is linked to genetic abnormalities, it can be passed down through families. One such genetic cause is mutations in the SOX3 gene, which have been associated with X-linked panhypopituitarism. This […]