Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPHS1 gene for Nephrotic syndrome type 2

PreTest Information

Clinical History of Patient who is going for NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic DNA Test gene NPHS1

Detail Description

NPHS1 Gene Nephrotic Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Nephrotic syndrome is a kidney disorder that results in excess protein in the urine, low levels of protein in the blood, high cholesterol levels, and swelling of the body. It is caused by damage to the glomeruli, which are tiny blood vessels in the kidneys responsible for filtering waste and excess fluid from the blood.

Nephrotic syndrome type 2 is caused by mutations in the NPHS1 gene, which provides instructions for making a protein called nephrin. This protein is essential for maintaining the structure and function of the glomeruli.

Symptoms

The symptoms of nephrotic syndrome type 2 can include:

• Swelling of the legs, ankles, feet, and face
• Weight gain due to excess fluid retention
• Fatigue
• Loss of appetite
• Foamy urine due to excess protein
• High cholesterol levels
• Increased susceptibility to infections

Diagnosis

A diagnosis of nephrotic syndrome type 2 is typically made through a combination of physical exams, blood tests, and urine tests. A kidney biopsy may also be necessary to confirm the diagnosis and determine the extent of the damage to the glomeruli.

NGS Genetic DNA Test

A Next-Generation Sequencing (NGS) Genetic DNA Test can be used to identify mutations in the NPHS1 gene that cause nephrotic syndrome type 2. This test involves analyzing a person's DNA to identify any changes in the genetic code that may be contributing to the disorder.

The cost of an NGS Genetic DNA Test for nephrotic syndrome type 2 in India is typically around INR 20,000.

Conclusion

If you or a loved one is experiencing symptoms of nephrotic syndrome type 2, it is important to seek medical attention as soon as possible. A diagnosis can be made through a combination of physical exams, blood tests, urine tests, and a kidney biopsy. An NGS Genetic DNA Test can also be used to identify mutations in the NPHS1 gene that cause the disorder. While the cost of this test can be significant, it can provide valuable information that can help with diagnosis and treatment.

At DNA Labs India, we offer a variety of genetic tests, including NGS Genetic DNA Tests for nephrotic syndrome type 2. Our team of experts is committed to providing accurate and reliable results to help individuals make informed decisions about their health. Contact us today to learn more about our services.

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 NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic DNA Test