ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test
Short Name: ERCC6L2 Gene BMFS Type 2 Test
Also known as: ERCC6L2 BMFS Type 2, Bone Marrow Failure Syndrome Type 2 due to ERCC6L2 mutation
ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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 detect pathogenic mutations in the ERCC6L2 gene for diagnosis of bone marrow failure syndrome type 2, enabling early intervention and genetic counseling.
- Test Code
- 2668
- Price
- ₹20,000
- Sample Type
- Blood, 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
Clinical history and genetic counseling session recommended.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
Blood sample drawn via venipuncture or spot on FTA card.
Report Delivery
Sample sent to lab for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the ERCC6L2 gene for diagnosis of bone marrow failure syndrome type 2, enabling early intervention and genetic counseling.
How to Prepare
- Ensure proper sample labeling
- Avoid hemolysis
- Store sample at appropriate temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing hereditary bone marrow failure syndromes, particularly in families with a history of blood disorders, aiding in early intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
If symptoms of bone marrow failure are present or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Not a standalone diagnostic tool
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample degradation
- ●Contamination
- ●Hemolysis in blood sample
Compare With Similar Tests
| Test | ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test | Fanconi Anemia Gene Panel |
|---|---|---|
| Comparison | ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2?
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Is home sample collection available?
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