ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
Short Name: ERCC4 Gene FA Complementation Group Q Test
Also known as: ERCC4-related Fanconi anemia, FA complementation group Q, ERCC4 gene mutation test
ERCC4 Gene Fanconi anemia, complementation group Q 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 3, 2026
Overview
The purpose of this test is to detect mutations in the ERCC4 gene associated with Fanconi anemia, complementation group Q, enabling early diagnosis, risk assessment for cancer and bone marrow failure, and guiding personalized management plans.
- Test Code
- 4932
- 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
No specific preparation required, but provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood on an FTA card may be used.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the ERCC4 gene associated with Fanconi anemia, complementation group Q, enabling early diagnosis, risk assessment for cancer and bone marrow failure, and guiding personalized management plans.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ERCC4 mutations is crucial for diagnosing Fanconi anemia, enabling timely interventions to manage symptoms and reduce cancer risk."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms ERCC4-related Fanconi anemia; increased risk for cancer and bone marrow failure; recommend regular monitoring and specialist care.
No pathogenic variant detected
No mutation found in ERCC4 gene; consider other genetic causes if symptoms persist; genetic counseling advised.
If you experience symptoms such as persistent anemia, frequent infections, easy bruising, or have a family history of Fanconi anemia, consult a healthcare professional for genetic testing and evaluation.
Limitations
- ⚠May not detect all types of mutations, such as large deletions
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
| Test | ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test | FANCA Gene Test | Fanconi Anemia Comprehensive Panel |
|---|---|---|---|
| Comparison | ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test | Tests for mutations in the FANCA gene, another common cause of Fanconi anemia. | Includes multiple genes associated with Fanconi anemia for broader screening. |
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