NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
Short Name: NCF1 Gene Granulomatous Disease NGS Test
Also known as: Chronic Granulomatous Disease type 1, NCF1-related CGD, Autosomal recessive CGD
NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 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
To identify mutations in the NCF1 gene for diagnosing chronic granulomatous disease type 1, guiding treatment decisions, and facilitating genetic counseling.
- Test Code
- 2879
- 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
Obtain clinical history and conduct a genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
Standard blood draw procedure using sterile equipment; for FTA card, one drop of blood is sufficient.
Report Delivery
Label samples correctly and transport to the laboratory under ambient room temperature conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the NCF1 gene for diagnosing chronic granulomatous disease type 1, guiding treatment decisions, and facilitating genetic counseling.
How to Prepare
- Use sterile needles and containers
- Ensure proper labeling with patient details
- Avoid hemolysis by gentle handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for diagnosing chronic granulomatous disease type 1, enabling targeted treatment and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or contamination
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of CGD type 1. Consult a specialist for management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.
Variant of Uncertain Significance (VUS)
Genetic variant found but clinical significance unknown. Repeat testing or family studies may be needed.
If symptoms such as recurrent infections or chronic inflammation persist, or if there is a family history of CGD, consult a geneticist or immunologist promptly.
Limitations
- ⚠May not detect all types of mutations in NCF1 gene
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results may take several weeks
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection or bleeding
Interfering Factors
- ●Poor sample quality or hemolysis
- ●Contamination during sample collection
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test | Sanger Sequencing | Blood Tests for Inflammation | Biopsy |
|---|---|---|---|---|
| Comparison | NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test | NGS is more comprehensive for detecting multiple variants, while Sanger is targeted but less efficient for large genes. | Blood tests show signs of infection but cannot identify genetic causes; NGS provides definitive diagnosis. | Biopsy reveals granulomas but not the underlying genetic defect; NGS identifies specific mutations. |
Frequently Asked Questions
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