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DNA Labs India

CTNS Gene Cystinosis, nephropathic NGS Genetic Test

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CTNS Gene Cystinosis, nephropathic NGS Genetic Test

Also known as: Nephropathic Cystinosis, CTNS Gene Cystinosis

CTNS Gene Cystinosis, nephropathic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 diagnosed in infancy or early childhood🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to detect mutations in the CTNS gene responsible for nephropathic cystinosis, enabling definitive diagnosis, genetic counseling, and informed management decisions to prevent kidney damage and other complications.

Test Code
2581
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, Next-Generation Sequencing
Step 1

Sample Collection

Genetic counseling session recommended to discuss family history and draw a pedigree chart.

Method: Venipuncture or Cheek Swab

Step 2

Laboratory Analysis

Sample collected via venipuncture or cheek swab by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed in the lab; report delivered in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is advised to understand the implications of testing and family history.
2
During the Test:A blood sample or cheek swab is collected; the procedure is minimally invasive.
3
After the Test:Wait for the report (3-4 weeks) and discuss results with a geneticist or nephrologist.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CTNS gene responsible for nephropathic cystinosis, enabling definitive diagnosis, genetic counseling, and informed management decisions to prevent kidney damage and other complications.

How to Prepare

  • Provide clinical history of the patient
  • Undergo genetic counseling session to document family history
  • Ensure sample is collected in a sterile environment

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for CTNS gene mutations is crucial for timely management of cystinosis and preventing progressive kidney damage. Consult a nephrologist for comprehensive care."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Cheek Swab
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of CTNS gene mutations associated with cystinosis.
📊

Positive for pathogenic variants

Confirms diagnosis of CTNS gene cystinosis; genetic counseling and treatment initiation recommended.

📊

Negative for pathogenic variants

No mutations detected; clinical symptoms may require further evaluation.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if genetic test results are positive, symptoms persist, or for guidance on treatment and management.

Limitations

  • ⚠May not detect all rare or novel mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is CTNS gene cystinosis?
CTNS gene cystinosis is a rare genetic disorder caused by mutations in the CTNS gene, leading to cystine accumulation and primarily affecting the kidneys, known as nephropathic cystinosis.
What are the symptoms of CTNS gene cystinosis?
Symptoms include poor growth, frequent urination, excessive thirst, dehydration, weak bones, photophobia, and chronic kidney disease, often appearing in infancy or early childhood.
How is CTNS gene cystinosis diagnosed?
Diagnosis involves clinical evaluation, blood and urine tests for cystine levels, and genetic testing such as NGS to detect CTNS gene mutations.
What is the cost of the NGS genetic test for CTNS gene cystinosis?
The cost is INR 20000 in India, with free home sample collection available in many cities.
What sample is required for the test?
The test can be performed on a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for the CTNS gene cystinosis NGS genetic test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of CTNS gene mutations, indicating a diagnosis of cystinosis, and warrants genetic counseling and treatment planning.
Can this test be done at home?
Yes, free home sample collection is available for online bookings across India in numerous cities.
What are the treatment options for cystinosis?
Treatment includes cystine-depleting therapy like cysteamine, along with supportive care for kidney and other organ involvement, guided by a nephrologist.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to discuss family history, implications of results, and draw a pedigree chart.
Who should consider this test?
Individuals with symptoms of cystinosis, a family history of the disorder, or children with unexplained kidney issues should consider this test.
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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