SLC3A1 Gene Cystinuria NGS Genetic Test
Short Name: SLC3A1 Cystinuria Test
Also known as: Cystinuria genetic test, SLC3A1 mutation analysis, Cystine stone genetic test
SLC3A1 Gene Cystinuria 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the SLC3A1 Gene Cystinuria NGS Genetic Test is to diagnose cystinuria by identifying mutations in the SLC3A1 gene. This helps confirm the genetic basis of the condition, guide treatment decisions, assess family risk, and enable early intervention to prevent kidney stone recurrence and associated complications.
- Test Code
- 2577
- 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
No specific preparation required. Provide clinical history and family pedigree as advised during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless otherwise directed.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC3A1 Gene Cystinuria NGS Genetic Test is to diagnose cystinuria by identifying mutations in the SLC3A1 gene. This helps confirm the genetic basis of the condition, guide treatment decisions, assess family risk, and enable early intervention to prevent kidney stone recurrence and associated complications.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This genetic test is essential for diagnosing cystinuria, a condition causing recurrent kidney stones. Early detection allows for preventive measures and tailored treatment to avoid complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of cystinuria. Genetic counseling and management strategies recommended.
Negative for pathogenic variant
No mutation detected in SLC3A1 gene. Consider other causes of kidney stones or additional genetic testing.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if you experience recurrent kidney stones, severe pain, blood in urine, or have a family history of cystinuria. After testing, discuss results with a healthcare provider for appropriate management.
Limitations
- ⚠May not detect all possible mutations in the SLC3A1 gene
- ⚠Cannot predict disease severity or onset
- ⚠Results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
Interfering Factors
- ●Sample contamination
- ●Improper sample handling or storage
- ●Recent blood transfusion
Frequently Asked Questions
What is the SLC3A1 Gene Cystinuria NGS Genetic Test?
Who should consider this test?
What is the cost of the test?
How is the sample collected?
Is fasting required before the test?
How long does it take to get results?
What do the results mean?
Can this test be done at home?
What are the symptoms of cystinuria?
How accurate is this test?
Is genetic counseling provided?
What should I do after receiving results?
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₹20,000Reference 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.
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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