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DNA Labs India

PKD1 Gene Polycystic kidney disease type 1, autosomal dominant NGS Genetic Test

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PKD1 Gene Polycystic kidney disease type 1, autosomal dominant NGS Genetic Test

Also known as: Polycystic Kidney Disease Type 1, ADPKD Type 1, PKD1 Gene Test

PKD1 Gene Polycystic kidney disease type 1, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the PKD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is to detect mutations in the PKD1 gene that cause autosomal dominant polycystic kidney disease. This test aids in confirming diagnosis, assessing risk for family members, and informing treatment strategies.

Test Code
5489
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 Technology
Step 1

Sample Collection

Provide clinical history and family pedigree chart. Genetic counseling recommended.

Step 2

Laboratory Analysis

Blood sample collected via venipuncture in a sterile environment.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications and family history.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation and consultation with healthcare provider.

About This Test

Who Should Get This Test

The purpose of the PKD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is to detect mutations in the PKD1 gene that cause autosomal dominant polycystic kidney disease. This test aids in confirming diagnosis, assessing risk for family members, and informing treatment strategies.

How to Prepare

  • Fast for 8-12 hours if required, but not specified for this test
  • Avoid strenuous activity before sample collection
  • Bring identification and prescription

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PKD1 is essential for early diagnosis and management of autosomal dominant polycystic kidney disease, helping to prevent complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood sample stable at room temperature for 48 hours
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results from the PKD1 Gene Test indicate the presence or absence of mutations associated with autosomal dominant polycystic kidney disease.
Positive result: Pathogenic variant detected, confirming diagnosis
Negative result: No pathogenic variant found, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a nephrologist or genetic specialist if test is positive or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by genetic specialist
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Contaminated DNA sample
  • ●Degraded sample quality
  • ●Technical errors in sequencing

Frequently Asked Questions

What is PKD1 Gene Polycystic Kidney Disease Type 1?
PKD1 Gene Polycystic Kidney Disease Type 1 is a genetic disorder caused by mutations in the PKD1 gene, leading to the formation of cysts in the kidneys and potential kidney failure.
What are the symptoms of PKD1 gene polycystic kidney disease?
Common symptoms include back and side pain, blood in urine, frequent urination, high blood pressure, headaches, abdominal pain, enlarged kidneys, and urinary tract infections.
How is PKD1 gene polycystic kidney disease diagnosed?
Diagnosis involves imaging tests like ultrasound, CT scan, or MRI to detect cysts, along with blood tests and genetic testing to confirm mutations in the PKD1 gene.
What is the cost of NGS Genetic Testing for PKD1 in India?
The cost of NGS Genetic Testing for PKD1 gene polycystic kidney disease type 1 in India is around INR 20,000 at DNA Labs India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Can this test be used for family screening?
Yes, genetic testing can help identify at-risk family members and guide screening and management strategies.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the PKD1 gene, confirming the diagnosis of autosomal dominant polycystic kidney disease type 1.
Are there any risks associated with the test?
The test involves minimal risks, such as bruising or infection from blood draw, but these are generally low.
How accurate is the NGS Genetic Test for PKD1?
NGS Genetic Testing is highly accurate for detecting mutations in the PKD1 gene, but interpretation should be done by a genetic specialist.
What should I do after receiving the test results?
Consult a healthcare provider, such as a nephrologist or genetic counselor, to discuss results, implications, and next steps for management.
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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