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CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic Test

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CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic Test

Short Name: CLCN5 Genetic Test

CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 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🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the CLCN5 gene that cause proteinuria, low molecular weight proteinuria, and hypercalciuric nephrocalcinosis, aiding in diagnosis, management, and genetic counseling.

Test Code
5494
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CLCN5 Gene Proteinuria.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To identify mutations in the CLCN5 gene that cause proteinuria, low molecular weight proteinuria, and hypercalciuric nephrocalcinosis, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Fasting not required
  • Use sterile collection tubes
  • Label samples correctly

Doctor's Notes

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

"This test is crucial for diagnosing hereditary kidney disorders, especially in families with a history of proteinuria or nephrocalcinosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Room TemperatureUp to 48 hours
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CLCN5 gene. Positive results confirm genetic etiology, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of CLCN5 Gene Proteinuria; genetic counseling recommended.

📊

No pathogenic variant detected

CLCN5 mutations not found; consider other causes or repeat testing if clinically indicated.

⚠️ When to Consult a Doctor:

If symptoms like persistent proteinuria, kidney stones, or family history of kidney disease are present, consult a nephrologist or geneticist.

Limitations

  • May not detect all genetic variants
  • Results require clinical correlation
  • Not a standalone diagnostic tool

Risks & Considerations

  • Minimal physical risks from blood draw
  • Potential psychological impact of genetic results

Frequently Asked Questions

What is CLCN5 Gene Proteinuria?
It is a rare genetic disorder caused by mutations in the CLCN5 gene, leading to proteinuria, low molecular weight proteinuria, and hypercalciuric nephrocalcinosis.
What are the symptoms of CLCN5 Gene Proteinuria?
Symptoms include excess protein in urine, calcium deposits in kidneys, kidney stones, weak bones, high blood pressure, and chronic kidney disease.
How is CLCN5 Gene Proteinuria diagnosed?
Diagnosis involves clinical evaluation, urine tests, imaging, and genetic testing such as NGS to confirm CLCN5 gene mutations.
What is the cost of the CLCN5 Gene NGS Genetic Test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in many cities across India.
What does a positive result mean?
A positive result confirms mutations in the CLCN5 gene, indicating a genetic cause for the condition, and genetic counseling is recommended.
Can this test be used for family planning?
Yes, genetic testing can help assess risks for family members and guide reproductive decisions.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but psychological impact of results should be considered.
What should I do if I have symptoms?
Consult a healthcare provider, such as a nephrologist or geneticist, for evaluation and possible testing.
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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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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