NPHP1 Gene Nephronophthisis type 1 NGS Genetic Test
Short Name: NPHP1 NGS Test
Also known as: Nephronophthisis type 1, NPHP1 disorder, NPHP1-related nephronophthisis
NPHP1 Gene Nephronophthisis type 1 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the NPHP1 gene to diagnose Nephronophthisis type 1, enabling early intervention, treatment planning, and genetic counseling for affected individuals and families.
- Test Code
- 5463
- 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)
Sample Collection
No special preparation is required. Provide clinical history and undergo genetic counseling if recommended.
Method: Venipuncture or saliva collection
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or a saliva sample as per instructions.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the NPHP1 gene to diagnose Nephronophthisis type 1, enabling early intervention, treatment planning, and genetic counseling for affected individuals and families.
How to Prepare
- Ensure proper identification and labeling of samples
- Follow aseptic techniques to avoid contamination
- For blood collection, use appropriate tubes (EDTA or FTA card)
- Saliva samples should be collected in sterile containers
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for NPHP1 can guide treatment, family planning, and management of kidney disorders in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing documentation
- Contaminated samples
Understanding Your Results
Positive
Pathogenic variant detected in the NPHP1 gene, confirming diagnosis of Nephronophthisis type 1. Genetic counseling and management planning are recommended.
Negative
No pathogenic variants detected. Clinical correlation is advised as symptoms may be due to other causes.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
Consult a doctor if you or your child experience symptoms like excessive thirst, frequent urination, or signs of kidney dysfunction, or if there is a family history of nephronophthisis.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Variants of uncertain significance may require further testing
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic or non-genetic causes of kidney disease
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Potential psychological impact of genetic results
- ●Concerns about genetic discrimination; legal protections may apply
Interfering Factors
- ●Poor sample quality or degradation
- ●Contamination during collection or processing
- ●Technical errors in sequencing
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | NPHP1 Gene Nephronophthisis type 1 NGS Genetic Test | Renal Biopsy | Kidney Ultrasound | Urine Analysis | Other Genetic Panels |
|---|---|---|---|---|---|
| Comparison | NPHP1 Gene Nephronophthisis type 1 NGS Genetic Test |
Frequently Asked Questions
What is NPHP1 Gene Nephronophthisis type 1?
What are the common symptoms of this disorder?
How is the NPHP1 Gene NGS Genetic Test performed?
What is the cost of the test?
How long does it take to get the results?
Is home sample collection available?
What does a positive test result mean?
What should I do if I have a family history of kidney disease?
Is genetic counseling necessary before or after the test?
Are there any risks associated with the test?
How accurate is the NGS Genetic Test?
Can this test be used for prenatal diagnosis?
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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.
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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