SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test
Short Name: SEC23B Gene Test for CDA Type II
Also known as: Congenital Dyserythropoietic Anemia Type II, CDA Type II, Hereditary Dyserythropoietic Anemia
SEC23B Gene Anemia dyserythropoietic type 2 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 accurately detect mutations in the SEC23B gene for definitive diagnosis of Anemia Dyserythropoietic Type 2 (CDA Type II), aiding in clinical management, genetic counseling, and family screening.
- Test Code
- 1890
- 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. Ensure genetic counseling is provided if indicated.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Standard venipuncture or finger-prick for FTA card collection following aseptic techniques.
Report Delivery
Label sample properly and transport at ambient temperature to the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To accurately detect mutations in the SEC23B gene for definitive diagnosis of Anemia Dyserythropoietic Type 2 (CDA Type II), aiding in clinical management, genetic counseling, and family screening.
How to Prepare
- Verify patient identity and consent
- Use appropriate collection tubes or FTA cards
- Avoid hemolysis during blood draw
- Store sample at room temperature until shipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing with SEC23B analysis is critical for confirming CDA Type II, guiding management to prevent complications like iron overload, and facilitating family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted sample
- Improper labeling or missing information
Understanding Your Results
No pathogenic variants detected
Negative for SEC23B mutations; CDA Type II unlikely but not excluded if clinical suspicion high.
Pathogenic or likely pathogenic variant detected
Confirms diagnosis of CDA Type II; enables targeted management and genetic counseling.
Variant of uncertain significance (VUS) detected
Further testing or family studies may be required; consult genetic specialist for guidance.
If experiencing symptoms of chronic anemia, unexplained fatigue, or have a family history of CDA Type II, consult a hematologist or geneticist for evaluation and possible testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions/duplications)
- ⚠Results may include variants of uncertain significance (VUS)
- ⚠Does not replace comprehensive clinical evaluation
Risks & Considerations
- ●Minimal physical risks from blood draw
- ●Potential psychological impact of genetic results
- ●Risk of identifying variants of uncertain significance requiring further investigation
Interfering Factors
- ●Sample contamination or degradation
- ●Recent blood transfusions affecting DNA purity
- ●Technical errors during sequencing or analysis
Compare With Similar Tests
| Test | SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test | Complete Blood Count (CBC) | Peripheral Blood Smear | Iron Studies | Sanger Sequencing of SEC23B |
|---|---|---|---|---|---|
| Comparison | SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test | Provides initial anemia detection but lacks genetic specificity. | Shows red cell abnormalities but cannot confirm genetic etiology. | Assesses iron status but not specific to CDA Type II. | Targeted but less comprehensive than NGS for mutation detection. |
Frequently Asked Questions
What is Anemia Dyserythropoietic Type 2?
How is the SEC23B Gene Test performed?
What is the cost of this genetic test in India?
Is home sample collection available?
How long does it take to get the results?
What sample type is required?
Are there any preparation steps before the test?
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Can this test be used for prenatal diagnosis?
What should I do if a variant of uncertain significance is found?
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