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SCNN1B Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test

Name: SCNN1B Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test
SKU: TEST-3771
Price: 4400 AED
Availability: InStock

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

-21%

The SCNN1B gene plays a crucial role in the normal function of epithelial sodium channels (ENaCs) which are essential for maintaining salt and fluid balance within the body. Mutations in the SCNN1B gene can lead to a rare genetic disorder known as Pseudohypoaldosteronism type 1 autosomal recessive (PHA1A). This condition is characterized by the body’s inability to respond properly to aldosterone, a hormone critical for sodium conservation, leading to salt wasting, dehydration, and electrolyte imbalances.

To diagnose this condition, a genetic test targeting the SCNN1B gene can be conducted. This test is particularly vital for individuals showing symptoms of PHA1A or for those with a family history of the condition. Early diagnosis through genetic testing can aid in managing symptoms effectively and in making informed decisions regarding treatment options.

In the UAE, DNA Labs UAE offers this specialized genetic test. The cost of the SCNN1B gene test for Pseudohypoaldosteronism type 1 autosomal recessive is set at 4400 AED. Conducting the test in a reputable laboratory like DNA Labs UAE ensures accuracy and reliability of the results, providing crucial information for patients and their families dealing with this challenging condition.

Description

SCNN1B Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test

Test Name: SCNN1B Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test

Components: SCNN1B gene pseudohypoaldosteronism, type 1, autosomal recessive is a genetic disorder that affects the function of the SCNN1B gene. This gene provides instructions for making a protein called the beta subunit of the epithelial sodium channel (ENaC). ENaC plays a crucial role in maintaining the balance of salt and water in the body. Individuals with pseudohypoaldosteronism, type 1 have mutations in both copies of the SCNN1B gene, resulting in a non-functional or reduced-functioning ENaC protein. This leads to impaired reabsorption of sodium in the kidneys, causing excessive salt loss in the urine. As a result, affected individuals experience dehydration, low blood pressure, and abnormally high levels of potassium in the blood.

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 SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test gene SCNN1B

Test Details: NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in the SCNN1B gene associated with pseudohypoaldosteronism, type 1. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations that may contribute to the disorder. This test involves sequencing the DNA of an individual to detect specific mutations or variants in the SCNN1B gene that are known to be associated with pseudohypoaldosteronism, type 1. The results of the NGS genetic test can help confirm a diagnosis of pseudohypoaldosteronism, type 1 and provide valuable information for the management and treatment of affected individuals. It can also be used for carrier testing in individuals with a family history of the disorder or for prenatal testing in couples at risk of having a child with pseudohypoaldosteronism, type 1.

Test Name	SCNN1B Gene Pseudohypoaldosteronism type 1 autosomal recessive 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 SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test gene SCNN1B
Test Details	SCNN1B gene pseudohypoaldosteronism, type 1, autosomal recessive is a genetic disorder that affects the function of the SCNN1B gene. This gene provides instructions for making a protein called the beta subunit of the epithelial sodium channel (ENaC). ENaC plays a crucial role in maintaining the balance of salt and water in the body. Individuals with pseudohypoaldosteronism, type 1 have mutations in both copies of the SCNN1B gene, resulting in a non-functional or reduced-functioning ENaC protein. This leads to impaired reabsorption of sodium in the kidneys, causing excessive salt loss in the urine. As a result, affected individuals experience dehydration, low blood pressure, and abnormally high levels of potassium in the blood. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in the SCNN1B gene associated with pseudohypoaldosteronism, type 1. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic variations that may contribute to the disorder. This test involves sequencing the DNA of an individual to detect specific mutations or variants in the SCNN1B gene that are known to be associated with pseudohypoaldosteronism, type 1. The results of the NGS genetic test can help confirm a diagnosis of pseudohypoaldosteronism, type 1 and provide valuable information for the management and treatment of affected individuals. It can also be used for carrier testing in individuals with a family history of the disorder or for prenatal testing in couples at risk of having a child with pseudohypoaldosteronism, type 1.