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XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic Test

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XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic Test

Short Name: XPNPEP3 Nephronophthisis NGS Test

Also known as: NPHP-like nephropathy type 1, XPNPEP3-related kidney disease

XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 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 from sample collection. 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

To detect mutations in the XPNPEP3 gene for accurate diagnosis of Nephronophthisis-like nephropathy type 1, aiding in early intervention, management, and genetic counseling.

Test Code
2619
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample collection
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling is recommended to discuss test implications, family history, and consent.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique; alternatively, saliva sample can be collected.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks from sample collection

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test, its implications, and provide informed consent. Share detailed family and medical history.
2
During the Test:A blood sample is collected via venipuncture or a saliva sample is provided. The procedure is quick and minimally invasive.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks. Follow up with a healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

To detect mutations in the XPNPEP3 gene for accurate diagnosis of Nephronophthisis-like nephropathy type 1, aiding in early intervention, management, and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • Collect blood in an EDTA tube or use FTA card for one drop
  • Label the sample with patient details and test information
  • Ensure proper storage and transport to maintain sample integrity

Doctor's Notes

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

"Early genetic testing for XPNPEP3 mutations can guide management and family planning, especially in families with a history of kidney disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 72 hours at 2-8°C
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Incorrect sample type or container
  • Sample without proper labeling or consent

Understanding Your Results

Results from the XPNPEP3 Gene NGS Genetic Test indicate the presence or absence of mutations in the XPNPEP3 gene, which are linked to Nephronophthisis-like nephropathy type 1.
Positive result: Pathogenic mutation detected, consistent with diagnosis of Nephronophthisis-like nephropathy type 1. Clinical management and family screening recommended.
Negative result: No pathogenic variants detected. However, clinical symptoms may still require further evaluation, as other genetic or non-genetic causes could be involved.
Variant of uncertain significance (VUS): A genetic variant with unclear clinical significance. Genetic counseling and additional testing may be advised.
Carrier status: Heterozygous mutation detected, indicating carrier status. Family planning counseling is recommended.
⚠️ When to Consult a Doctor:

If you or a family member experience symptoms of kidney disease such as frequent urination, excessive thirst, fatigue, or have a family history of nephronophthisis, consult a nephrologist or geneticist for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Variant of uncertain significance may be identified, necessitating further testing

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results, mitigated by counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed or lipemic samples

Frequently Asked Questions

What is the XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the XPNPEP3 gene, which causes a rare kidney disorder called Nephronophthisis-like nephropathy type 1.
Who should consider getting this test?
Individuals with symptoms of kidney disease (e.g., frequent urination, excessive thirst), a family history of nephronophthisis, or those diagnosed with chronic kidney disease of unknown cause should consider this test.
How is the test performed?
The test requires a blood or saliva sample. Blood is drawn via venipuncture, or a saliva sample is collected. The DNA is then analyzed using NGS technology in a laboratory.
What is the cost of the XPNPEP3 Gene Test in India?
The cost is INR 20,000 at DNA Labs India, which includes sample collection, analysis, and report delivery. Free home collection is available in many cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India, making it convenient for patients.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed online, via email, or WhatsApp.
What do the test results mean?
A positive result indicates a mutation in the XPNPEP3 gene, confirming diagnosis. A negative result means no mutation was detected, but clinical correlation is needed. Variants of uncertain significance may require further evaluation.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your insurance provider. DNA Labs India offers affordable pricing and may assist with documentation for claims.
What are the symptoms of Nephronophthisis-like nephropathy type 1?
Symptoms include frequent urination, excessive thirst, weakness, fatigue, shortness of breath, leg swelling, high blood pressure, and proteinuria (excess protein in urine).
Can this test be used for prenatal diagnosis?
Yes, if there is a known family history of XPNPEP3 mutations, prenatal testing can be considered. Genetic counseling is essential to discuss options and implications.
What is the accuracy of the NGS Genetic Test?
NGS technology is highly accurate for detecting point mutations and small genetic changes in the XPNPEP3 gene. However, it may not detect all types of mutations, such as large deletions.
How should I prepare for the test?
No special preparation is required, such as fasting. However, genetic counseling is recommended before testing to understand the process and implications. Bring a detailed family medical history.
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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