ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Bone Marrow Disorders
The ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hematological conditions. This advanced test specifically targets the ERCC6L2 gene, which plays a crucial role in DNA repair mechanisms and hematopoietic stem cell function. Bone marrow failure syndromes are rare but serious conditions where the bone marrow fails to produce sufficient blood cells, leading to life-threatening complications.
What Does This Test Measure?
Our comprehensive NGS-based genetic test analyzes the ERCC6L2 gene for mutations associated with bone marrow failure syndrome type 2. The test specifically detects:
- Pathogenic variants in the ERCC6L2 gene
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions and deletions that disrupt normal protein production
- Copy number variations impacting gene dosage
- Splice site mutations affecting RNA processing
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained anemia or low blood cell counts
- Recurrent infections due to neutropenia
- Abnormal bleeding or bruising tendencies
- Family history of bone marrow failure disorders
- Developmental delays with hematological abnormalities
- Previous inconclusive bone marrow biopsy results
- Children with failure to thrive and blood abnormalities
Clinical Benefits of Genetic Testing
Undergoing the ERCC6L2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of bone marrow failure
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides information for genetic counseling and reproductive decisions
- Proactive Monitoring: Enables early intervention for at-risk family members
- Disease Prognosis: Helps predict disease progression and complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic ERCC6L2 mutation, confirming genetic predisposition to bone marrow failure syndrome type 2
- Negative Result: Suggests no detectable mutations in the ERCC6L2 gene, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation and family studies
- Carrier Status: Determines if you carry a single copy of the mutation, important for family planning decisions
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Hematology Genetics |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential implications and limitations of testing
- Informed consent process explaining benefits and risks
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about genetic bone marrow disorders affect your quality of life. Our ERCC6L2 genetic test provides the clarity you need for informed medical decisions. Early genetic diagnosis can significantly impact treatment outcomes and family planning strategies.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to assist you with compassionate, professional care and answer all your questions about genetic testing for bone marrow failure syndromes.
Take the first step toward understanding your genetic health and ensuring the best possible care for you and your family. Contact us today to begin your journey to genetic clarity and personalized medical management.
