ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic DNA Test
Understanding Bone Marrow Failure Syndrome Type 2
Bone Marrow Failure Syndrome Type 2 is a rare genetic disorder characterized by the inability of bone marrow to produce sufficient blood cells. The ERCC6L2 gene plays a critical role in DNA repair mechanisms and cellular maintenance. When mutations occur in this gene, it can lead to progressive bone marrow failure, increasing the risk of severe anemia, bleeding disorders, and susceptibility to infections.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically analyzes the ERCC6L2 gene for mutations associated with Bone Marrow Failure Syndrome Type 2. The test utilizes cutting-edge Next-Generation Sequencing technology to examine:
- Point mutations in the ERCC6L2 gene
- Insertions and deletions affecting gene function
- Copy number variations
- Structural variants impacting DNA repair mechanisms
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained persistent fatigue and weakness
- Recurrent infections and compromised immunity
- Easy bruising or abnormal bleeding tendencies
- Pale skin and shortness of breath
- Family history of bone marrow disorders
- Children with developmental delays and hematological abnormalities
- Patients with suspected inherited bone marrow failure syndromes
Clinical Benefits of ERCC6L2 Genetic Testing
Early detection through genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Bone Marrow Failure Syndrome Type 2
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Proactive Monitoring: Allows for early intervention and complication prevention
- Improved Outcomes: Facilitates timely bone marrow transplantation when indicated
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your ERCC6L2 gene status:
- Positive Result: Indicates the presence of pathogenic mutations associated with Bone Marrow Failure Syndrome Type 2, requiring immediate hematological consultation
- Negative Result: Suggests no detectable mutations in the ERCC6L2 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if you carry a single copy of the mutated gene, important for family planning decisions
Test Information and Pricing
| Test Parameter | 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 |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Current hematological laboratory findings
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and hematology specialists ensures comprehensive care regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about bone marrow disorders affect your quality of life. Our ERCC6L2 Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment strategies. Early detection can significantly improve outcomes and quality of life for patients with Bone Marrow Failure Syndrome Type 2.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your future wellbeing.
