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INVS Gene Nephronophthisis type 2 NGS Genetic Test

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INVS Gene Nephronophthisis type 2 NGS Genetic Test

Short Name: INVS Gene Nephronophthisis Type 2 NGS Test

Also known as: INVS Gene Test, Nephronophthisis Type 2 Genetic Analysis

INVS Gene Nephronophthisis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestChildhood to Adolescence🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Nephronophthisis type 2 by identifying genetic mutations in the INVS gene using NGS technology.

Test Code
5468
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

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

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

Sample processed for NGS analysis; results interpreted by genetic experts.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and NGS analysis.
3
After the Test:Result interpretation and follow-up counseling.

About This Test

Who Should Get This Test

To diagnose Nephronophthisis type 2 by identifying genetic mutations in the INVS gene using NGS technology.

How to Prepare

  • Provide detailed clinical history of the patient.
  • Undergo genetic counseling to assess family history.
  • Ensure proper sample labeling and handling.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the INVS gene. Consult a genetic counselor for detailed interpretation.
Positive result: Pathogenic mutation detected, confirming diagnosis.
Negative result: No mutation detected; clinical evaluation may be needed.
Variant of uncertain significance: Further testing or family studies recommended.
⚠️ When to Consult a Doctor:

If symptoms of Nephronophthisis type 2 appear or if there is a family history of the disorder.

Limitations

  • Test may not detect all genetic variants; clinical correlation is recommended.

Risks & Considerations

  • Minimal risk associated with blood draw, such as bruising or infection.

Frequently Asked Questions

What is the INVS Gene Nephronophthisis type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the INVS gene for mutations causing Nephronophthisis type 2, a rare kidney disorder.
Who should consider getting this test?
Individuals with symptoms like excessive thirst, frequent urination, or family history of Nephronophthisis type 2, especially children or adolescents.
What are the common symptoms of Nephronophthisis type 2?
Symptoms include polyuria, polydipsia, nocturia, anemia, short stature, and progressive renal failure.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect mutations in the INVS gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, genetic analysis, and result interpretation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the INVS gene, confirming a diagnosis of Nephronophthisis type 2.
Are there any risks associated with the test?
The test involves minimal risks, primarily related to blood draw, such as slight bruising or discomfort.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate genetic counseling, but confirmatory testing might be needed.
What is the accuracy of the test?
The test has a high degree of accuracy due to advanced NGS technology, but clinical correlation is advised.
How should I prepare for the test?
No special preparation is required, but provide clinical history and undergo genetic counseling before testing.
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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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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