CLCN5 Gene Nephrolithiasis type 1 NGS Genetic Test
Also known as: CLCN5-related nephrolithiasis, Dent disease type 1
CLCN5 Gene Nephrolithiasis 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic Test is to detect mutations in the CLCN5 gene that cause hereditary nephrolithiasis, enabling early diagnosis, targeted treatment, and genetic counseling for affected individuals and their families.
- Test Code
- 5459
- 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
Clinical history of the patient, including symptoms and family history of nephrolithiasis, should be reviewed. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA card
Laboratory Analysis
Blood sample is collected via venipuncture or using an FTA card for DNA extraction.
Report Delivery
Sample is processed for DNA extraction and NGS analysis. Results are available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic Test is to detect mutations in the CLCN5 gene that cause hereditary nephrolithiasis, enabling early diagnosis, targeted treatment, and genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper labeling of the sample with patient details.
- Use sterile collection tubes or FTA cards as specified.
- Transport sample at ambient room temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Incorrectly labeled or insufficient sample volume
- Samples not meeting stability requirements
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of CLCN5 Gene Nephrolithiasis Type 1. Genetic counseling and targeted management are recommended.
Negative for pathogenic variant
No mutations detected in the CLCN5 gene. Clinical symptoms may be due to other causes; further evaluation may be needed.
Variant of uncertain significance
A genetic variant was identified but its clinical significance is unknown. Repeat testing or family studies may be advised.
Consult a doctor if you experience symptoms of nephrolithiasis such as severe back pain, blood in urine, or recurrent kidney stones, especially with a family history of the condition. Genetic counseling is advised for positive test results.
Limitations
- ⚠This test may not detect all possible mutations in the CLCN5 gene due to technical limitations.
- ⚠Results should be interpreted in conjunction with clinical findings and family history.
- ⚠Genetic variants of uncertain significance may be identified, requiring further evaluation.
Risks & Considerations
- ●Minimal physical risks from blood draw, such as infection or hematoma.
- ●Potential psychological impact from genetic results, addressed through counseling.
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing
Frequently Asked Questions
What is CLCN5 Gene Nephrolithiasis Type 1?
What are the symptoms of CLCN5 Gene Nephrolithiasis Type 1?
How is CLCN5 Gene Nephrolithiasis Type 1 diagnosed?
What is the cost of the CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic Test?
Who should consider this genetic test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
What are the benefits of getting this test?
Can this test be done at home?
What if the test result is positive?
Is the test covered by insurance?
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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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