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PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic Test

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PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic Test

Short Name: PKHD1 ARPKD NGS Test

Also known as: Autosomal Recessive Polycystic Kidney Disease, ARPKD, PKHD1-related disorder

PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive 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 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 PKHD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is designed to identify mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD). It confirms diagnosis, guides treatment decisions, informs genetic counseling, and supports family planning by assessing carrier status in relatives.

Test Code
5486
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 family members affected with ARPKD.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of one drop of blood on an FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and assessment of clinical history.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Laboratory analysis, report generation, and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The PKHD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is designed to identify mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD). It confirms diagnosis, guides treatment decisions, informs genetic counseling, and supports family planning by assessing carrier status in relatives.

How to Prepare

  • Provide detailed clinical history
  • Undergo genetic counseling if recommended
  • Ensure sample is collected in appropriate container

Doctor's Notes

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

"Early genetic testing for ARPKD can guide management, inform family planning, and improve outcomes through timely intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample stable at room temperature for 24 hours
FTA card sample stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results from the PKHD1 Gene NGS Genetic Test are interpreted based on the presence or absence of pathogenic mutations in the PKHD1 gene. Genetic counseling is essential to understand implications.
📊

Positive for pathogenic mutation

Confirms diagnosis of ARPKD; indicates carrier status or affected individual

📊

Negative for pathogenic mutation

No known ARPKD mutations detected; does not rule out other genetic causes

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but clinical significance unknown; further testing may be needed

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of ARPKD are present, for family planning if there is a family history, or to discuss genetic test results and management options.

Limitations

  • ⚠May not detect all possible PKHD1 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
ARPKD is a rare genetic disorder caused by mutations in the PKHD1 gene, leading to cyst formation in the kidneys and liver, typically diagnosed in infancy.
How is the PKHD1 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the PKHD1 gene from a blood or DNA sample, detecting mutations associated with ARPKD.
Who should consider this genetic test?
Individuals with symptoms of ARPKD, a family history of the disorder, or those planning a family with known carrier status.
What does a positive test result mean?
A positive result confirms the presence of pathogenic PKHD1 mutations, indicating ARPKD diagnosis or carrier status, requiring genetic counseling.
Is the test painful or risky?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but risks are minimal.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test be done during pregnancy?
Yes, prenatal testing is possible through methods like chorionic villus sampling or amniocentesis, but consult a genetic counselor.
What is the cost of the PKHD1 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is genetic counseling included?
Yes, genetic counseling is recommended and often included to help interpret results and discuss implications.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but may not identify all variants; results should be correlated with clinical data.
What if the test shows a Variant of Uncertain Significance (VUS)?
A VUS means the genetic variant's clinical impact is unknown; further testing or family studies may be needed for clarification.
Can this test be used for family planning?
Yes, it helps identify carriers and assess risk for future offspring, aiding in informed family planning decisions.
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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