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ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic Test

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ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic Test

Short Name: ACTN4 FSGS Type 1 NGS Test

Also known as: ACTN4 Gene Mutation Test, FSGS Type 1 Genetic Test, Alpha-Actinin-4 Gene Test

ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the ACTN4 gene associated with Focal Segmental Glomerulosclerosis Type 1. It aids in definitive diagnosis, differentiates from other kidney diseases, enables targeted therapy, and facilitates genetic counseling for affected families.

Test Code
5387
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions.

Step 3

Report Delivery

Sample transported to the lab for NGS analysis; results delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Provide detailed clinical and family history.
2
During the Test:A blood sample is drawn from a vein in the arm.
3
After the Test:Wait for report delivery; follow-up with healthcare provider for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ACTN4 gene associated with Focal Segmental Glomerulosclerosis Type 1. It aids in definitive diagnosis, differentiates from other kidney diseases, enables targeted therapy, and facilitates genetic counseling for affected families.

How to Prepare

  • Ensure proper patient identification and labeling
  • Avoid hemolysis during blood draw
  • Store sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for ACTN4 mutations can aid in timely diagnosis and management of FSGS Type 1, potentially improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Stable at 2-8°C for 48 hours
Avoid repeated freeze-thaw cycles
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the ACTN4 gene. A positive result suggests a genetic cause for FSGS Type 1, while a negative result may require further investigation.
📊

Pathogenic mutation detected

Consistent with FSGS Type 1; clinical correlation and genetic counseling recommended.

📊

No pathogenic mutation detected

FSGS Type 1 due to ACTN4 mutation is unlikely; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a nephrologist or geneticist if symptoms of FSGS are present, there is a family history of kidney disease, or for guidance on test results and management.

Limitations

  • ⚠May not detect all types of ACTN4 mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling is recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Risk of genetic discrimination, though protected by laws in some regions

Interfering Factors

  • ●Sample contamination
  • ●Technical errors in sequencing
  • ●Insufficient DNA quality

Compare With Similar Tests

TestACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic TestKidney BiopsyUrine Protein TestBlood Kidney Function Tests
ComparisonACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic TestInvasive procedure that directly examines kidney tissue but does not identify genetic mutations.Non-invasive test for proteinuria but lacks specificity for genetic causes.Measures kidney function markers but does not diagnose underlying genetic conditions.

Frequently Asked Questions

What is the ACTN4 Gene FSGS Type 1 NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the ACTN4 gene, which can cause Focal Segmental Glomerulosclerosis Type 1, a rare kidney disease.
Why is this test recommended?
It is recommended for individuals with symptoms of FSGS, such as proteinuria and edema, or a family history of kidney disorders, to confirm a genetic diagnosis.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the ACTN4 gene.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection across India.
Is home collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a mutation in the ACTN4 gene linked to FSGS Type 1, while a negative result suggests no such mutation was detected.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological implications, so counseling is advised.
How should I prepare for the test?
No fasting is required. Provide a detailed clinical history and attend a genetic counseling session before testing.
Can this test diagnose other conditions?
It specifically targets ACTN4 gene mutations for FSGS Type 1. Other kidney diseases may require different tests.
Is genetic counseling required?
Yes, genetic counseling is recommended to understand the test implications, results, and family planning options.
How accurate is the test?
NGS technology is highly sensitive and specific for detecting gene mutations, but accuracy depends on sample quality and laboratory standards.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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