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DNA Labs India

AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic Test

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AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic Test

Short Name: AQP2 Gene NGS Test

Also known as: AQP2 gene test, Nephrogenic diabetes insipidus genetic test, Autosomal NDI genetic test

AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

Next-Generation Sequencing (NGS)🏠 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 detect pathogenic mutations in the AQP2 gene that cause nephrogenic diabetes insipidus, enabling accurate diagnosis, family planning, and personalized treatment plans.

Test Code
2582
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger-prick. Ensure proper identification and sample labeling.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required unless specified.
2
During the Test:Blood sample collection via venipuncture or finger-prick. Procedure takes about 10-15 minutes.
3
After the Test:Resume normal activities. Monitor puncture site for any discomfort.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the AQP2 gene that cause nephrogenic diabetes insipidus, enabling accurate diagnosis, family planning, and personalized treatment plans.

How to Prepare

  • Fast for 8-12 hours if specified by physician
  • Avoid strenuous activity before sample collection
  • Bring identification and prescription

Doctor's Notes

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

"Genetic testing for AQP2 gene mutations is crucial for accurate diagnosis and management of nephrogenic diabetes insipidus, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AQP2 gene. Positive results confirm genetic cause for nephrogenic diabetes insipidus, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of autosomal nephrogenic diabetes insipidus. Genetic counseling recommended for family members.

📊

Negative for pathogenic variant

No mutations detected in AQP2 gene. Consider other genetic or non-genetic causes of diabetes insipidus.

📊

Variant of uncertain significance

Further testing and clinical correlation needed. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like excessive thirst, frequent urination, dehydration, or if there is a family history of nephrogenic diabetes insipidus. After test results, consult for treatment options and genetic counseling.

Limitations

  • ⚠May not detect all possible mutations in the AQP2 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other causes of diabetes insipidus

Risks & Considerations

  • ●Minor pain or bruising at puncture site
  • ●Rare risk of infection
  • ●No significant long-term risks

Interfering Factors

  • ●Degraded DNA sample
  • ●Contaminated sample
  • ●Incorrect sample storage

Frequently Asked Questions

What is the AQP2 gene?
The AQP2 gene encodes aquaporin-2, a protein that helps kidneys reabsorb water. Mutations can cause nephrogenic diabetes insipidus.
What is nephrogenic diabetes insipidus?
It is a condition where kidneys cannot respond to vasopressin, leading to excessive urine production and thirst.
How is the AQP2 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the AQP2 gene for mutations from a blood or DNA sample.
What is the cost of the AQP2 gene test?
The test costs INR 20000, with home sample collection available across India.
Who should get this test?
Individuals with symptoms of diabetes insipidus, family history of NDI, or children with growth delays should consider this test.
Is fasting required for the test?
No, fasting is not typically required unless specified by your physician.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do positive results mean?
Positive results confirm a genetic mutation in the AQP2 gene, indicating autosomal nephrogenic diabetes insipidus.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting mutations, but results should be interpreted with clinical correlation.
What are the treatment options after diagnosis?
Treatment may include medications, dietary changes, and fluid management to control symptoms.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and family implications.
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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