COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test
Also known as: COX4I2 Gene Mutation Test, COX4I2 Genetic Analysis
COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 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 diagnose mutations in the COX4I2 gene that cause exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, enabling early intervention and management.
- Test Code
- 4930
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- Yes
- Method
- NGS Technology
Sample Collection
Clinical history of patient and genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Standard blood collection procedure via venipuncture.
Report Delivery
Sample is processed for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the COX4I2 gene that cause exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, enabling early intervention and management.
How to Prepare
- Fast if required
- Provide detailed clinical history
- Attend genetic counseling session before testing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Consult a geneticist for personalized advice on COX4I2 gene testing and management of associated conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect container
Understanding Your Results
If symptoms of exocrine pancreatic insufficiency, dyserythropoietic anemia, or calvarial hyperostosis are present, or for family history of these conditions.
Limitations
- ⚠Test only detects mutations in COX4I2 gene
- ⚠May not detect all variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risks from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Compare With Similar Tests
| Test | COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test | Whole Exome Sequencing |
|---|---|---|
| Comparison | COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test |
Frequently Asked Questions
What is the COX4I2 Gene NGS Genetic Test?
What conditions are associated with COX4I2 gene mutations?
What are the symptoms of exocrine pancreatic insufficiency?
What are the symptoms of dyserythropoietic anemia?
What are the symptoms of calvarial hyperostosis?
How is the test performed?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the results?
What is the cost of the test?
Is home sample collection available?
What should I do if the test is positive?
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