PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic Test
Short Name: PKHD1 Gene Polycystic Disease Test
Also known as: Autosomal Recessive Polycystic Kidney Disease (ARPKD), PKHD1-Related Disorder
PKHD1 Gene Polycystic kidney and hepatic disease 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic Test is to accurately diagnose the condition by identifying mutations in the PKHD1 gene. This enables early detection, facilitates timely medical intervention, supports family planning through carrier testing, and helps in monitoring at-risk individuals to prevent complications such as kidney or liver failure.
- Test Code
- 5484
- 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
Sample Collection
Ensure genetic counseling is provided to discuss test implications. No specific fasting is required, but follow standard blood draw preparation.
Method: Blood Draw
Laboratory Analysis
Collect blood sample via venipuncture into an EDTA tube or use FTA card for blood drop as per instructions. Maintain sterile technique.
Report Delivery
Label samples correctly and transport to the laboratory at ambient temperature. Avoid hemolysis or clotting.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic Test is to accurately diagnose the condition by identifying mutations in the PKHD1 gene. This enables early detection, facilitates timely medical intervention, supports family planning through carrier testing, and helps in monitoring at-risk individuals to prevent complications such as kidney or liver failure.
How to Prepare
- Use EDTA tube for blood samples or FTA card for blood drops
- Ensure proper patient identification and labeling
- Store samples at room temperature (15-30°C) until shipment
- Avoid exposure to extreme temperatures or direct sunlight
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for PKHD1 mutations can aid in timely management, family planning, and preventive care for at-risk individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Improperly labeled or contaminated samples
- Samples stored outside recommended stability conditions
Understanding Your Results
Positive (Mutation Detected)
Indicates the presence of a pathogenic variant in the PKHD1 gene. This may confirm diagnosis in symptomatic individuals or identify carriers in asymptomatic cases. Further clinical evaluation and genetic counseling are recommended.
Negative (No Mutation Detected)
No pathogenic variants were identified in the PKHD1 gene. This does not completely rule out the disease if symptoms persist, as other genetic or non-genetic factors may be involved. Consider additional testing or clinical assessment.
Variant of Uncertain Significance (VUS)
A genetic variant was detected, but its clinical significance is unknown. Repeat testing or family studies may be needed for clarification. Consult with a genetic counselor for guidance.
Consult a doctor if you experience symptoms such as abdominal pain, high blood pressure, or urinary issues, especially with a family history of polycystic disease. Genetic counseling is advised before and after testing for informed decision-making.
Limitations
- ⚠May not detect all types of mutations, such as large deletions, insertions, or intronic variants
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Does not rule out other genetic or non-genetic causes of similar symptoms
- ⚠Carrier status may not be fully determined without additional family testing
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
- ●Emotional impact of genetic results, necessitating counseling
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Insufficient sample volume for analysis
- ●Presence of inhibitors in the sample affecting NGS technology
Compare With Similar Tests
| Test | PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic Test | Ultrasound Imaging | Blood Tests for Kidney and Liver Function | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic Test | Non-invasive imaging to detect cysts in kidneys and liver, but may not identify genetic mutations. Useful for initial screening. | Assesses organ function through markers like creatinine and liver enzymes, but does not provide genetic diagnosis. | Traditional genetic testing method that targets specific genes, but less comprehensive than NGS for detecting multiple mutations. |
Frequently Asked Questions
What is the PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic Test?
Who should consider taking this test?
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What is the cost of the PKHD1 Gene Test in India?
Is home sample collection available for this test?
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Is the NGS Genetic Test accurate?
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What is polycystic kidney and hepatic disease?
How can I prepare for the PKHD1 Gene Test?
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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.
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