PRF1 Gene Aplastic Anemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Bone Marrow Disorders
The PRF1 Gene Aplastic Anemia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with severe bone marrow failure conditions. This specialized test focuses on the PRF1 (Perforin-1) gene, which plays a critical role in immune system regulation and cellular function. When mutations occur in this gene, they can lead to devastating hematological conditions including aplastic anemia and familial hemophagocytic lymphohistiocytosis (FHL).
What Does This Test Measure?
Our advanced NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire PRF1 gene to detect:
- Point mutations affecting protein function
- Insertions and deletions disrupting gene expression
- Missense mutations altering protein structure
- Nonsense mutations causing premature protein termination
- Splice site variants affecting RNA processing
The test provides complete sequencing coverage of all coding regions and critical regulatory elements of the PRF1 gene, ensuring comprehensive mutation detection for accurate diagnosis.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained bone marrow failure or aplastic anemia
- Recurrent infections with unusual severity
- Family history of hematological disorders
- Diagnosed hemophagocytic lymphohistiocytosis (HLH)
- Unexplained cytopenias (low blood cell counts)
- Children with suspected inherited immune deficiencies
- Individuals planning pregnancy with family history of blood disorders
Clinical Benefits of PRF1 Genetic Testing
Undergoing PRF1 gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic basis of bone marrow failure
- Treatment Guidance: Informs appropriate therapeutic approaches
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Genetic Counseling: Supports comprehensive family risk assessment
- Personalized Medicine: Guides targeted treatment protocols
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutation requiring specialized care
- Negative Result: No PRF1 mutations detected, suggesting other causes
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with single mutation copies
All results include detailed clinical correlations and recommendations for follow-up care with hematology specialists.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| PRF1 Gene Aplastic Anemia NGS Genetic DNA Test – Discount Price | $500 |
| PRF1 Gene Aplastic Anemia NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent quality and reliable results regardless of testing location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks compromise your health decisions. Our PRF1 Gene Aplastic Anemia NGS Genetic DNA Test provides the clarity needed for informed medical management and family planning. With rapid turnaround times of 3-4 weeks and simple sample collection (blood, extracted DNA, or blood spot on FTA card), getting answers has never been easier.
Ready to schedule your genetic test? Contact our genetic counseling team at +1(267) 388-9828 or book your appointment online today. Our specialists are available to discuss your testing options, answer questions about pre-test requirements, and provide comprehensive support throughout your genetic testing journey.
