FANCE Gene Fanconi anemia type E NGS Genetic Test
Short Name: FANCE Gene Test
Also known as: Fanconi Anemia Type E Genetic Test, FANCE Gene Mutation Analysis, Fanconi Anemia E Gene NGS Test
FANCE Gene Fanconi anemia type E 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
The purpose of the FANCE Gene Fanconi Anemia Type E NGS Genetic Test is to detect mutations in the FANCE gene for accurate diagnosis of Fanconi Anemia Type E. This helps in early intervention, treatment planning, and genetic counseling for affected individuals and their families.
- Test Code
- 1979
- 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
Consult with a genetic counselor to understand the test implications and provide informed consent. Ensure accurate clinical and family history documentation.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will draw a blood sample or collect a DNA sample using standard sterile techniques.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per guidelines before transportation to the lab.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FANCE Gene Fanconi Anemia Type E NGS Genetic Test is to detect mutations in the FANCE gene for accurate diagnosis of Fanconi Anemia Type E. This helps in early intervention, treatment planning, and genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile equipment for blood collection
- For FTA cards, follow manufacturer instructions for blood application
- Maintain sample integrity during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of Fanconi Anemia Type E, especially in families with a history of the disorder or symptoms like bone marrow failure and birth defects."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive
Pathogenic variant(s) detected in the FANCE gene, consistent with Fanconi Anemia Type E. Clinical correlation and genetic counseling recommended.
Negative
No pathogenic variants detected in the FANCE gene. Does not rule out other genetic causes of Fanconi anemia.
Variant of uncertain significance
A variant identified but with unknown clinical significance. Further testing and family studies may be required.
Consult a doctor if you experience symptoms like persistent anemia, frequent infections, unusual bleeding, or have a family history of Fanconi anemia. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Requires confirmation with complementary methods like Sanger sequencing
- ⚠Results should be interpreted in clinical context
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage
Compare With Similar Tests
| Test | FANCE Gene Fanconi anemia type E NGS Genetic Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | Sanger Sequencing | Fanconi Anemia Comprehensive Gene Panel |
|---|---|---|---|---|---|
| Comparison | FANCE Gene Fanconi anemia type E NGS Genetic Test | CBC measures blood cell counts but cannot identify genetic mutations; it is a preliminary screening tool. | Bone marrow biopsy assesses marrow function but does not provide genetic diagnosis; used alongside genetic tests. | Sanger sequencing is targeted and accurate for known mutations but less comprehensive than NGS for variant discovery. | Panel tests multiple Fanconi anemia genes simultaneously, while this test focuses specifically on the FANCE gene. |
Frequently Asked Questions
What is Fanconi Anemia Type E?
Who should consider the FANCE Gene NGS Genetic Test?
How is the test performed?
What is the cost of the FANCE Gene Genetic Test?
How long does it take to get the results?
Is fasting required before the test?
What does a positive result mean?
Can the test detect all mutations in the FANCE gene?
Is home sample collection available?
What should I do before getting tested?
Is the test suitable for prenatal diagnosis?
How can I book the test?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.