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UMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic Test

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UMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic Test

Short Name: UMOD Hyperuricemic Nephropathy NGS Test

Also known as: Familial Juvenile Hyperuricemic Nephropathy Type 1, UMOD-related Kidney Disease

UMOD Gene Hyperuricemic nephropathy, familial juvenile 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. Free home collection in 300+ cities across India.

NGS Genetic TestAll ages, typically juvenile onset🏠 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 purpose of this test is to identify mutations in the UMOD gene that cause hyperuricemic nephropathy, familial juvenile type 1, enabling early diagnosis, family screening, and personalized management to prevent kidney complications.

Test Code
5430
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended. Provide informed consent.
2
During the Test:Sample analyzed using NGS technology in a certified lab.
3
After the Test:Results reviewed by a geneticist. Follow-up counseling provided.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the UMOD gene that cause hyperuricemic nephropathy, familial juvenile type 1, enabling early diagnosis, family screening, and personalized management to prevent kidney complications.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Early genetic testing for UMOD mutations can guide treatment and prevent kidney failure in affected families."

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
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the UMOD gene associated with hyperuricemic nephropathy.
Positive result: Pathogenic mutation detected, confirm diagnosis and initiate management
Negative result: No mutations found, consider other causes
Variant of uncertain significance: Further testing and counseling recommended
⚠️ When to Consult a Doctor:

Consult a nephrologist or geneticist if symptoms persist, family history is positive, or test results are abnormal.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestUMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic TestSLC22A12 Gene TestUMOD Full Gene SequencingKidney Function Panel
ComparisonUMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic TestFor renal hypouricemia, different gene and conditionMore comprehensive but higher costNon-genetic, assesses kidney function but not specific mutations

Frequently Asked Questions

What is UMOD gene hyperuricemic nephropathy?
It is a rare genetic disorder caused by UMOD gene mutations, leading to high uric acid levels and kidney damage.
How is the UMOD gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the UMOD gene.
What is the cost of the UMOD gene test in India?
The cost is approximately INR 20,000, which may vary by lab and includes home collection.
Who should consider this genetic test?
Individuals with a family history of hyperuricemic nephropathy, symptoms of kidney dysfunction, or elevated uric acid levels.
What are the symptoms of this condition?
Symptoms include frequent urination, blood in urine, swelling, high blood pressure, reduced urine output, back pain, and fatigue.
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 across many cities in India.
What does a positive test result mean?
A positive result indicates a pathogenic UMOD mutation, confirming the diagnosis and guiding treatment and family screening.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, especially since the condition often has juvenile onset.
What is the accuracy of NGS genetic testing?
NGS is highly accurate for detecting gene mutations, but genetic counseling is recommended for result interpretation.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection, and potential psychological impact of results.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and family pedigree during genetic counseling.
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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