COX4I2 Gene Dyserythropoietic anemia NGS Genetic Test
Short Name: COX4I2 Gene Test
Also known as: COX4I2 Gene Dyserythropoietic Anemia Test, NGS Test for COX4I2 Mutation
COX4I2 Gene Dyserythropoietic anemia 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 3-4 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 COX4I2 Gene Dyserythropoietic Anemia NGS Genetic Test is to detect mutations in the COX4I2 gene that cause dyserythropoietic anemia. This helps in confirming diagnosis, guiding treatment decisions, assessing genetic risk for family members, and enabling personalized medical management.
- Test Code
- 2678
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and genetic counseling information.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the COX4I2 Gene Dyserythropoietic Anemia NGS Genetic Test is to detect mutations in the COX4I2 gene that cause dyserythropoietic anemia. This helps in confirming diagnosis, guiding treatment decisions, assessing genetic risk for family members, and enabling personalized medical management.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Use sterile equipment for blood collection
- Follow standard phlebotomy procedures
- For FTA card, apply one drop of blood and air-dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for COX4I2 mutations is crucial for diagnosing dyserythropoietic anemia and guiding personalized treatment strategies, such as blood transfusions or bone marrow transplant."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples without proper consent or clinical history
Understanding Your Results
Mutation Detected
Confirms diagnosis of COX4I2 gene dyserythropoietic anemia. Genetic counseling and treatment planning recommended.
No Mutation Detected
No pathogenic variants found in the COX4I2 gene. Consider other causes of anemia and additional tests if clinically indicated.
Consult a hematologist or genetic specialist if you experience symptoms of anemia, have a family history of dyserythropoietic anemia, or receive abnormal test results for further evaluation and management.
Limitations
- ⚠May not detect all possible mutations in the COX4I2 gene
- ⚠Cannot predict disease severity or progression with certainty
- ⚠Results require correlation with clinical findings and other tests
- ⚠Limited to known pathogenic variants; novel variants may not be identified
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusions may affect DNA analysis
- ●Technical errors in sequencing or data interpretation
Compare With Similar Tests
| Test | COX4I2 Gene Dyserythropoietic anemia NGS Genetic Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | Iron Studies Test |
|---|---|---|---|---|
| Comparison | COX4I2 Gene Dyserythropoietic anemia NGS Genetic Test | CBC measures blood cell counts but cannot identify genetic mutations. NGS test provides specific genetic diagnosis. | Biopsy assesses bone marrow function but is invasive. NGS test is non-invasive and targets genetic causes. | Iron studies evaluate iron levels but do not detect genetic mutations. NGS test identifies underlying genetic disorder. |
Frequently Asked Questions
What is COX4I2 gene dyserythropoietic anemia?
How is the NGS genetic test performed?
What is the cost of the COX4I2 gene test?
Is home sample collection available for this test?
How long does it take to get results?
What are the symptoms of COX4I2 gene dyserythropoietic anemia?
How is dyserythropoietic anemia treated?
Is the test covered by insurance?
What is the accuracy of the NGS test?
Can the test detect all mutations in the COX4I2 gene?
What should I do before the test?
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