CTNS Gene Cystinosis, nephropathic NGS Genetic Test
Short Name: Cystinosis NGS Test
Also known as: Cystinosis Genetic Test, CTNS Gene Sequencing Test
CTNS Gene Cystinosis, nephropathic 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 CTNS gene cystinosis nephropathic NGS genetic test is to identify pathogenic mutations in the CTNS gene responsible for cystinosis. This aids in confirming diagnosis, differentiating from other metabolic disorders, facilitating early treatment with cystine-depleting agents like cysteamine, and providing genetic counseling for affected families.
- Test Code
- 1962
- 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
Provide detailed clinical history of the patient, including family history of cystinosis or related disorders. A genetic counseling session is recommended to draw a pedigree chart and discuss test implications.
Method: Venipuncture or FTA Card
Laboratory Analysis
Sample collection involves drawing a blood sample by a trained phlebotomist or using a drop of blood on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply gentle pressure to the puncture site to prevent bruising. Keep the sample at ambient room temperature as specified.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CTNS gene cystinosis nephropathic NGS genetic test is to identify pathogenic mutations in the CTNS gene responsible for cystinosis. This aids in confirming diagnosis, differentiating from other metabolic disorders, facilitating early treatment with cystine-depleting agents like cysteamine, and providing genetic counseling for affected families.
How to Prepare
- Fasting is not required for this test
- Bring identification and prescription or referral letter
- Ensure sample is labeled correctly with patient details
- Use provided containers for blood or FTA card samples
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis through NGS testing is crucial for managing cystinosis and preventing organ damage, especially in infants and children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated samples
Understanding Your Results
Consult a healthcare provider immediately if test results are positive, if symptoms worsen, or if there are concerns about family planning. Regular follow-up with a nephrologist or geneticist is advised for management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Requires clinical correlation for variants of uncertain significance
- ⚠Does not substitute for biochemical tests like cystine level measurement in some cases
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising at the puncture site
- ●Rare risk of infection or hematoma
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Hemolyzed blood samples
- ●Improper sample storage conditions
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Frequently Asked Questions
What is cystinosis?
What causes cystinosis?
What are the symptoms of cystinosis in infants?
How is cystinosis diagnosed?
What is the CTNS gene?
What is NGS genetic testing?
What is the cost of the CTNS gene cystinosis test in India?
Is home sample collection available for this test?
How long does it take to get test results?
What do positive test results mean?
Is genetic counseling required before testing?
What are the treatment options for cystinosis?
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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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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