Short Description

NGS genetic DNA test detecets for variant and mutation detection in NR3C2 gene for Pseudohypoaldosteronism, type 1, autosomal dominant

PreTest 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

Detail Description

NR3C2 Gene Pseudohypoaldosteronism, Type 1, Autosomal Dominant NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Pseudohypoaldosteronism is a rare genetic disorder that affects the body's ability to regulate sodium and potassium levels. There are two types of pseudohypoaldosteronism: type 1 and type 2. Type 1 is an autosomal dominant disorder caused by mutations in the NR3C2 gene. This gene provides instructions for making a protein called the mineralocorticoid receptor, which plays a crucial role in regulating sodium and potassium levels in the body.

Individuals with pseudohypoaldosteronism type 1 have a defect in the mineralocorticoid receptor, which leads to an inability to respond to the hormone aldosterone. Aldosterone is responsible for regulating sodium and potassium levels in the body, and without it, individuals with pseudohypoaldosteronism type 1 experience high levels of potassium and low levels of sodium in their blood.

Symptoms of Pseudohypoaldosteronism Type 1

The symptoms of pseudohypoaldosteronism type 1 can vary widely from person to person and may include:

• Dehydration
• Weakness
• Fatigue
• Low blood pressure
• Slow growth and development
• Seizures
• Heart arrhythmias

Diagnosis of Pseudohypoaldosteronism Type 1

The diagnosis of pseudohypoaldosteronism type 1 is typically made through a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can reveal high potassium and low sodium levels in the blood, while genetic testing can identify mutations in the NR3C2 gene that are responsible for the disorder.

NGS Genetic DNA Test for Pseudohypoaldosteronism Type 1

The most accurate way to diagnose pseudohypoaldosteronism type 1 is through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can quickly and accurately identify mutations in the NR3C2 gene. This test is typically performed on a blood sample and can provide a definitive diagnosis of the disorder.

Cost of NGS Genetic DNA Test for Pseudohypoaldosteronism Type 1 in India

The cost of NGS genetic DNA testing for pseudohypoaldosteronism type 1 in India is typically around INR 20,000. This cost may vary depending on the specific laboratory and testing method used.

Conclusion

Pseudohypoaldosteronism type 1 is a rare genetic disorder that can have serious health consequences if left untreated. If you or a loved one is experiencing symptoms of the disorder, it is important to seek medical attention and consider genetic testing to obtain an accurate diagnosis. NGS genetic DNA testing is a reliable and efficient way to diagnose pseudohypoaldosteronism type 1, and the cost of the test is typically affordable in India.

At DNA Labs India, we offer NGS genetic DNA testing for pseudohypoaldosteronism type 1 and a wide range of other genetic disorders. Contact us today to learn more about our testing services and how we can help you obtain an accurate diagnosis.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic DNA Test