ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test
Short Name: ERCC6L2 BMF Type 2 NGS Test
Also known as: ERCC6L2 Mutation Test, Bone Marrow Failure Syndrome Type 2 Genetic Test, ERCC6L2 Gene Analysis
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 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of the ERCC6L2 Gene NGS Genetic Test is to identify mutations in the ERCC6L2 gene associated with bone marrow failure syndrome type 2, aiding in accurate diagnosis, prognosis, and management of the condition.
- Test Code
- 5677
- 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 specific preparation required. Provide clinical history and family pedigree information.
Method: Venipuncture or fingerstick
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.
Report Delivery
Apply pressure to the puncture site. Store sample as per instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ERCC6L2 Gene NGS Genetic Test is to identify mutations in the ERCC6L2 gene associated with bone marrow failure syndrome type 2, aiding in accurate diagnosis, prognosis, and management of the condition.
How to Prepare
- Ensure proper labeling of sample
- Use sterile collection equipment
- Transport sample at ambient temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for ERCC6L2 mutations is crucial for early diagnosis and management of bone marrow failure syndrome type 2, especially in pediatric patients with unexplained blood disorders."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Negative
No pathogenic variant detected in ERCC6L2 gene. Clinical correlation recommended.
Positive
Pathogenic variant detected. Confirms diagnosis of bone marrow failure syndrome type 2. Genetic counseling advised.
Consult a doctor if experiencing symptoms like fatigue, easy bleeding, or frequent infections, especially with a family history of bone marrow disorders.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusions
Compare With Similar Tests
| Test | ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test | Fanconi Anemia Genetic Test | Dyskeratosis Congenita Genetic Test | Shwachman-Diamond Syndrome Test | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test | Tests for different genes causing bone marrow failure. | Focuses on telomere-related genes. | Targets SBDS gene mutations. | Broader genetic analysis for multiple conditions. |
Frequently Asked Questions
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