CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test
Short Name: CISD2 Gene Test
Also known as: Wolfram Syndrome Type 2 Genetic Test, CISD2 Mutation Analysis, WFS2 Genetic Test
CISD2 Gene Wolfram syndrome type 2 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic Test is to diagnose Wolfram Syndrome Type 2 by identifying pathogenic mutations in the CISD2 gene. It also helps determine carrier status for the mutation, which is vital for family planning and genetic counseling. This test supports clinical decision-making and personalized management for affected individuals.
- Test Code
- 4796
- 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 special preparation is required. Provide clinical history and family pedigree information as advised.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist, or a drop of blood can be placed on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic Test is to diagnose Wolfram Syndrome Type 2 by identifying pathogenic mutations in the CISD2 gene. It also helps determine carrier status for the mutation, which is vital for family planning and genetic counseling. This test supports clinical decision-making and personalized management for affected individuals.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples correctly
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Wolfram Syndrome Type 2 through CISD2 gene testing is crucial for timely management, family planning, and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Wolfram Syndrome Type 2 or carrier status. Genetic counseling recommended.
Negative for pathogenic mutation
No CISD2 gene mutations detected. Does not completely rule out other genetic causes if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Carrier status
Heterozygous mutation detected; individual is a carrier. Risk of passing to offspring if partner is also a carrier.
Consult a doctor if you or a family member experience symptoms such as hearing loss, vision loss, diabetes, bladder problems, or balance issues, especially with a family history of Wolfram Syndrome. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance (VUS)
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test | Sanger Sequencing | Whole Exome Sequencing | Targeted Gene Panel | MLPA for Deletions/Duplications |
|---|---|---|---|---|---|
| Comparison | CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Wolfram Syndrome Type 2?
How is the CISD2 Gene Test performed?
Who should consider this test?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is the test painful?
Can this test diagnose other types of Wolfram Syndrome?
Is genetic counseling necessary?
What if I am a carrier?
Are there any risks to the test?
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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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