Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCNN1B gene for Pseudohypoaldosteronism, type 1, autosomal recessive

PreTest 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

Detail Description

SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic DNA Test

SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive is a rare genetic disorder that affects the body's ability to regulate salt and water balance. This disorder is caused by mutations in the SCNN1B gene, which provides instructions for making a protein called the beta subunit of the epithelial sodium channel. This protein plays a crucial role in the kidneys, lungs, and sweat glands, where it helps to control the flow of sodium ions into and out of cells.

Symptoms

The symptoms of SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive can vary depending on the severity of the disorder. The most common symptoms include:

• Dehydration
• Low blood pressure
• Low blood sodium levels
• Low blood potassium levels
• Frequent urination
• Excessive sweating
• Delayed growth
• Developmental delays

Diagnosis

SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive is diagnosed through a combination of clinical evaluation, laboratory tests, and genetic testing. A doctor will typically perform a physical exam and review the patient's medical history to identify any symptoms or risk factors for the disorder. Blood and urine tests may also be used to measure electrolyte levels and assess kidney function. Genetic testing is the most definitive way to diagnose SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive. This involves analyzing a sample of the patient's DNA to identify mutations in the SCNN1B gene.

NGS Genetic DNA Test

The NGS Genetic DNA Test is a highly accurate and reliable way to diagnose SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive. This test uses next-generation sequencing technology to analyze multiple genes simultaneously, allowing for a more comprehensive and efficient diagnosis. The NGS Genetic DNA Test is a non-invasive procedure that involves collecting a small sample of the patient's blood or saliva. The sample is then sent to a specialized laboratory for analysis, and the results are typically available within a few weeks.

Cost

The cost of the NGS Genetic DNA Test for SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive varies depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive is a rare genetic disorder that can cause a range of symptoms related to salt and water balance. Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing, with the NGS Genetic DNA Test being the most accurate and efficient method. If you or a loved one is experiencing symptoms of SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive, talk to your doctor about the possibility of genetic testing.