NOD2 Gene Blau syndrome NGS Genetic Test
Short Name: Blau Syndrome NGS Test
Also known as: Juvenile Sarcoidosis
NOD2 Gene Blau 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
To confirm a diagnosis of Blau syndrome by detecting mutations in the NOD2 gene, aiding in clinical management, genetic counseling, and family planning.
- Test Code
- 5675
- 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 special preparation required. Provide clinical history and family pedigree.
Method: Venipuncture or saliva collection
Laboratory Analysis
Blood draw or saliva sample collected by trained phlebotomist.
Report Delivery
Apply pressure to puncture site. Store sample as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm a diagnosis of Blau syndrome by detecting mutations in the NOD2 gene, aiding in clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper identification of patient
- Use sterile collection equipment
- Label samples accurately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Blau syndrome is crucial for accurate diagnosis, guiding treatment, and providing genetic counseling to families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrect labeling
Understanding Your Results
Consult a geneticist or pediatrician if symptoms persist or if there is a family history of Blau syndrome.
Limitations
- ⚠May not detect all rare variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is Blau syndrome?
What are the symptoms of Blau syndrome?
How is Blau syndrome diagnosed?
What is the NOD2 gene?
What does the NOD2 Gene Blau Syndrome NGS Genetic Test involve?
What is the cost of the test in India?
How long does it take to get results?
Is home sample collection available?
Who should consider this test?
What are the treatment options for Blau syndrome?
Is the test covered by insurance?
How accurate is the NGS genetic 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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