CLCN4 Gene Raynaud-Claes syndrome NGS Genetic Test
Short Name: CLCN4 Gene Test
Also known as: CLCN4-related disorder, Bone and teeth genetic syndrome
CLCN4 Gene Raynaud-Claes syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic Test is to diagnose Raynaud-Claes Syndrome by detecting pathogenic mutations in the CLCN4 gene. This enables early identification, facilitates genetic counseling, supports family planning decisions, and guides personalized management strategies to improve patient outcomes.
- Test Code
- 1795
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Ensure patient provides informed consent and clinical history for accurate genetic counseling.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample collected via venipuncture or finger prick under sterile conditions. For FTA card, one drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Label the sample correctly and store at ambient room temperature for transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic Test is to diagnose Raynaud-Claes Syndrome by detecting pathogenic mutations in the CLCN4 gene. This enables early identification, facilitates genetic counseling, supports family planning decisions, and guides personalized management strategies to improve patient outcomes.
How to Prepare
- Verify patient identity and consent
- Use aseptic technique to avoid contamination
- Collect sample in specified container (EDTA tube or FTA card)
- Transport samples at room temperature to the lab promptly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CLCN4 mutations is crucial for managing Raynaud-Claes Syndrome, enabling personalized care and family genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Improperly labeled or contaminated samples
- Insufficient sample volume
- Samples not stored as per guidelines
Understanding Your Results
Negative (No pathogenic variants)
No mutations detected in CLCN4 gene; Raynaud-Claes Syndrome unlikely, but clinical evaluation may be needed.
Positive (Pathogenic variant detected)
Mutation identified in CLCN4 gene, confirming diagnosis of Raynaud-Claes Syndrome; genetic counseling recommended.
Variant of Uncertain Significance (VUS)
Genetic change detected but not yet classified as pathogenic; further testing and monitoring may be advised.
Consult a doctor if you or your child experience symptoms such as abnormal teeth or bone development, delayed tooth eruption, frequent fractures, or if there is a family history of Raynaud-Claes Syndrome. Early consultation facilitates timely genetic testing and management.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance (VUS)
- ⚠Requires genetic counseling for proper interpretation
- ⚠Not a standalone diagnostic tool; clinical correlation is essential
- ⚠Limited to known pathogenic variants in the CLCN4 gene
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain findings requiring further testing
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Incorrect sample collection or storage
- ●Recent blood transfusions or stem cell transplants
- ●Technical issues during NGS sequencing
Frequently Asked Questions
What is Raynaud-Claes Syndrome?
What does the CLCN4 gene do?
How is the NGS Genetic Test performed?
What is the cost of the test?
Is fasting required for this test?
How long does it take to get results?
What are the symptoms of Raynaud-Claes Syndrome?
Can this test detect all mutations in the CLCN4 gene?
Is home sample collection available?
Who should consider this test?
What should I do if the test is positive?
Is the test covered by insurance?
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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.
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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