ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
Short Name: ERCC4 Gene FA NGS Test
Also known as: FANQ, ERCC4 Gene Fanconi Anemia, Fanconi Anemia Complementation Group Q
ERCC4 Gene Fanconi anemia, complementation group Q 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose ERCC4 Gene Fanconi Anemia by identifying pathogenic mutations in the ERCC4 gene, assess carrier status, and support clinical management and genetic counseling.
- Test Code
- 2744
- 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
Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card, following standard aseptic procedures.
Report Delivery
Sample is labeled, stored at ambient temperature, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose ERCC4 Gene Fanconi Anemia by identifying pathogenic mutations in the ERCC4 gene, assess carrier status, and support clinical management and genetic counseling.
How to Prepare
- Ensure patient identification and consent
- Use appropriate collection tubes or FTA cards
- Avoid hemolysis during blood draw
- Label samples accurately with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through genetic testing is crucial for managing Fanconi anemia, monitoring cancer risk, and guiding family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ERCC4 Gene Fanconi Anemia; recommend cancer screening and genetic counseling.
Negative for pathogenic variant
No mutations detected in ERCC4 gene; consider other genetic tests if clinical suspicion remains.
Variant of Uncertain Significance (VUS)
Genetic variant identified but clinical significance unknown; recommend follow-up testing and consultation.
Consult a genetic counselor or healthcare provider if you experience symptoms such as abnormal skin pigmentation, short stature, frequent infections, or have a family history of Fanconi anemia. Early consultation is advised for cancer risk assessment and family planning.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic causes of Fanconi anemia
- ⚠Carrier status may not be fully determined in all cases
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
- ●Hemolyzed blood samples
Frequently Asked Questions
What is ERCC4 Gene Fanconi Anemia?
What are the symptoms of ERCC4 Gene Fanconi Anemia?
How is ERCC4 Gene Fanconi Anemia diagnosed?
What is the cost of the ERCC4 Gene Fanconi Anemia NGS Genetic Test?
Is home sample collection available for this test?
What sample type is required for the test?
How long does it take to get the test results?
Can this test identify carriers of the ERCC4 mutation?
What should I do before taking the test?
Are there any risks associated with the test?
Is the test covered by insurance schemes like PMJAY or CGHS?
What if the test results are positive?
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