NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
Short Name: NCF1 Genetic Test
Also known as: Chronic Granulomatous Disease Type 1, CGD Type 1, 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 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 3, 2026
Overview
To diagnose chronic granulomatous disease by detecting pathogenic mutations in the NCF1 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.
- Test Code
- 4947
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with granulomatous disease are recommended.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or one drop blood on FTA card.
Report Delivery
Sample is sent to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose chronic granulomatous disease by detecting pathogenic mutations in the NCF1 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper sample labeling with patient details
- Avoid hemolysis during blood collection
- Store sample at ambient room temperature if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing chronic granulomatous disease and guiding treatment options, especially for patients with recurrent infections and immune deficiencies."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated sample
- Incorrect sample type
Understanding Your Results
Positive for pathogenic variant
Diagnosis of NCF1-related granulomatous disease is likely. Genetic counseling and clinical correlation are recommended.
Negative for pathogenic variant
No evidence of NCF1 gene mutation. Consider other genetic or non-genetic causes if symptoms persist.
Variant of uncertain significance
Further testing and family studies may be required for clarification.
If symptoms such as chronic infections, skin granulomas, or immune deficiencies are present, or if there is a family history of granulomatous disease.
Limitations
- ⚠May not detect all types of mutations in the NCF1 gene
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Genetic privacy and psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Improper sample storage
Compare With Similar Tests
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| Comparison | NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test |
Frequently Asked Questions
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