Renal tubular acidosis (RTA) with deafness is a rare genetic disorder caused by mutations in the ATP6V1B1 gene. This condition is characterized by the kidney’s inability to properly acidify the urine, leading to a buildup of acid in the blood, a condition known as metabolic acidosis. Additionally, individuals with this genetic mutation often experience sensorineural […]
Nephrology Diseases
Symptoms and Testing information for ATP6V0A4 Gene Renal tubular acidosis distal autosomal recessive Genetic Test
Renal tubular acidosis (RTA) is a medical condition characterized by the failure of the kidneys to properly acidify the urine. Among the various types of RTA, distal renal tubular acidosis (dRTA) is a significant form that is often inherited in an autosomal recessive manner. The ATP6V0A4 gene has been identified as one of the genetic […]
Symptoms and Testing information for SLC4A4 Gene Renal tubular acidosis proximal with ocular abnormalities Genetic Test
In the quest to understand and diagnose genetic disorders with precision, DNA Labs UAE stands at the forefront, offering a comprehensive range of genetic testing services. Among these, the SLC4A4 gene renal tubular acidosis proximal with ocular abnormalities genetic test is pivotal for diagnosing a rare but significant disorder. This test, priced at 4400 AED, […]
Symptoms and Testing information for SLC4A5 Gene Renal tubular acidosis SLC4A5 related Genetic Test
Renal tubular acidosis (RTA) is a medical condition that occurs when the kidneys fail to properly acidify the urine. This failure leads to the blood remaining too acidic, which can cause a host of complications throughout the body. One specific type of RTA, known as type 2 RTA or proximal RTA, can be related to […]
Symptoms and Testing information for ACE Gene Renal tubular dysgenesis Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services designed to provide insights into various genetic conditions. One such test is the ACE Gene Renal Tubular Dysgenesis Genetic Test. This detailed examination is specifically designed to detect mutations in the ACE gene, which can lead to […]
Symptoms and Testing information for SLC26A4 Gene Pendred Syndrome Genetic Test
Pendred Syndrome is a genetic disorder that affects the inner ear and thyroid gland, leading to hearing loss and a goiter. It is caused by mutations in the SLC26A4 gene, which plays a crucial role in the development and function of these organs. DNA Labs UAE offers a comprehensive genetic test for Pendred Syndrome, aimed […]
Symptoms and Testing information for SCNN1A Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test
Symptoms of SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder affecting electrolyte balance and blood pressure regulation. It is caused by mutations in the SCNN1A gene among others, leading to an autosomal recessive inheritance pattern. This condition is characterized by the body’s inability to properly […]
Symptoms and Testing information for PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary Genetic Test
Pigmented Nodular Adrenocortical Disease Type 1, also known as Primary Pigmented Nodular Adrenocortical Disease (PPNAD), is a rare form of adrenal gland disorder that is part of a larger condition known as Carney Complex. It is primarily caused by mutations in the PRKAR1A gene. Understanding the symptoms of this genetic condition is crucial for early […]
Symptoms and Testing information for LHX3 Gene Pituitary Hormone Deficiency Combined Type 3 Genetic Test
Certainly! Here’s the article structured as requested: Understanding the Symptoms of LHX3 Gene Pituitary Hormone Deficiency Combined Type 3 The LHX3 gene plays a pivotal role in the development and function of the pituitary gland, which is a small but crucial gland located at the base of the brain. This gland is responsible for producing […]
Symptoms and Testing information for LHX4 Gene Pituitary Hormone Deficiency Combined Type 4 Genetic Test
The LHX4 gene plays a critical role in the development and functioning of the pituitary gland, which is a vital part of the body’s endocrine system. Mutations in the LHX4 gene can lead to a rare disorder known as Combined Pituitary Hormone Deficiency (CPHD) Type 4. This condition is characterized by a spectrum of symptoms […]