Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTN4 gene for Focal segmental glomerulosclerosis type 1

PreTest Information

Clinical History of Patient who is going for ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic DNA Test gene ACTN4

Detail Description

ACTN4 Gene Focal Segmental Glomerulosclerosis Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ACTN4 gene is responsible for encoding the alpha-actinin-4 protein, which is involved in the maintenance of the glomerular filtration barrier in the kidneys. Mutations in this gene can lead to the development of focal segmental glomerulosclerosis (FSGS) type 1, a rare kidney disease that affects the glomeruli.

Symptoms of FSGS Type 1

The symptoms of FSGS type 1 include:

• Proteinuria (excessive protein in the urine)
• Hypoalbuminemia (low levels of albumin in the blood)
• Edema (swelling) in the legs, ankles, and feet
• Hypertension (high blood pressure)
• Reduced kidney function
• Chronic kidney disease

Diagnosis of FSGS Type 1

The diagnosis of FSGS type 1 involves a combination of clinical evaluation, laboratory tests, and imaging studies. The following tests may be performed:

• Urine tests to check for proteinuria
• Blood tests to check for hypoalbuminemia and kidney function
• Kidney biopsy to examine the kidney tissue under a microscope
• Imaging studies such as ultrasound or CT scan to evaluate the kidneys

NGS Genetic DNA Test for ACTN4 Gene

The next-generation sequencing (NGS) genetic DNA test is a highly sensitive and specific test that can detect mutations in the ACTN4 gene. This test can help diagnose FSGS type 1 and guide appropriate treatment.

Cost of NGS Genetic DNA Test for ACTN4 Gene

The cost of the NGS genetic DNA test for the ACTN4 gene in India is INR 20000. This cost may vary depending on the laboratory and location.

Conclusion

FSGS type 1 is a rare kidney disease that can lead to significant morbidity and mortality. Early diagnosis and appropriate treatment are essential for improving outcomes. The NGS genetic DNA test for the ACTN4 gene is a valuable tool for diagnosing FSGS type 1 and guiding treatment decisions.

At DNA Labs India, we offer state-of-the-art genetic testing services for a wide range of conditions, including FSGS type 1. Our team of experts is dedicated to providing accurate and timely results to help improve patient outcomes. Contact us today to learn more about our services.