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NR3C2 Gene Pseudohypoaldosteronism Type 1 Autosomal Dominant Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The NR3C2 gene plays a crucial role in regulating the balance of salt and water in the body through the mineralocorticoid receptor, which is crucial for aldosterone signaling. Mutations in the NR3C2 gene can lead to Pseudohypoaldosteronism Type 1 (PHA1), a rare genetic disorder characterized by the body’s inability to respond properly to aldosterone, leading to salt wasting, dehydration, and electrolyte imbalances. There are two forms of PHA1: an autosomal recessive form that affects multiple organs and is more severe, and an autosomal dominant form that typically affects only the kidneys but presents milder symptoms.

To diagnose the autosomal dominant form of PHA1 linked to the NR3C2 gene, a specific genetic test can be conducted. This test involves analyzing the patient’s DNA to identify mutations in the NR3C2 gene that are responsible for the condition. In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the test is 4400 AED, which is a critical investment for families seeking a definitive diagnosis for conditions related to electrolyte imbalance and salt wasting. Early and accurate diagnosis through this genetic test can lead to better management of the condition and improve the quality of life for those affected.

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NR3C2 Gene Pseudohypoaldosteronism type 1 autosomal dominant Genetic Test

Components

  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test type: Hepatology Nephrology Endocrinology Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic DNA Test gene NR3C2.

Test Details

The NR3C2 gene is associated with a condition called pseudohypoaldosteronism, type 1 (PHA1). PHA1 is a rare genetic disorder characterized by an inability of the kidneys to respond to the hormone aldosterone, which regulates the balance of salt and water in the body. The NR3C2 gene provides instructions for making a protein called the mineralocorticoid receptor (MR). This protein is responsible for binding to aldosterone and activating genes that help regulate sodium and potassium levels in the kidneys. Mutations in the NR3C2 gene can disrupt the function of the mineralocorticoid receptor, leading to the signs and symptoms of PHA1. These may include dehydration, excessive salt loss, low blood pressure, high potassium levels, and failure to thrive in infants.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the case of PHA1, NGS can be used to identify mutations in the NR3C2 gene, allowing for a definitive diagnosis of the condition. This test can help determine the underlying cause of PHA1 in an individual and guide appropriate treatment and management strategies. It is important to note that PHA1 can also be caused by mutations in other genes, such as the SCNN1A, SCNN1B, and SCNN1G genes, which are associated with autosomal recessive forms of the condition. Therefore, NGS testing may include analysis of multiple genes to ensure a comprehensive evaluation of the genetic causes of PHA1.

Test Name NR3C2 Gene Pseudohypoaldosteronism type 1 autosomal dominant Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Hepatology Nephrology Endocrinology Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic DNA Test gene NR3C2
Test Details

The NR3C2 gene is associated with a condition called pseudohypoaldosteronism, type 1 (PHA1). PHA1 is a rare genetic disorder characterized by an inability of the kidneys to respond to the hormone aldosterone, which regulates the balance of salt and water in the body.

The NR3C2 gene provides instructions for making a protein called the mineralocorticoid receptor (MR). This protein is responsible for binding to aldosterone and activating genes that help regulate sodium and potassium levels in the kidneys.

Mutations in the NR3C2 gene can disrupt the function of the mineralocorticoid receptor, leading to the signs and symptoms of PHA1. These may include dehydration, excessive salt loss, low blood pressure, high potassium levels, and failure to thrive in infants.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the case of PHA1, NGS can be used to identify mutations in the NR3C2 gene, allowing for a definitive diagnosis of the condition. This test can help determine the underlying cause of PHA1 in an individual and guide appropriate treatment and management strategies.

It is important to note that PHA1 can also be caused by mutations in other genes, such as the SCNN1A, SCNN1B, and SCNN1G genes, which are associated with autosomal recessive forms of the condition. Therefore, NGS testing may include analysis of multiple genes to ensure a comprehensive evaluation of the genetic causes of PHA1.

SKU: TEST-3769 Category:

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