PML-RARA t(15;17)(q22;q12) Gene Rearrangement Qualitative PCR Test
Understanding the PML-RARA Gene Rearrangement Test
The PML-RARA t(15;17)(q22;q12) Gene Rearrangement Qualitative PCR Test represents a cornerstone in modern molecular diagnostics for hematological malignancies. This sophisticated test specifically targets the genetic hallmark of Acute Promyelocytic Leukemia (APL), a distinct subtype of acute myeloid leukemia characterized by the fusion of PML (Promyelocytic Leukemia) and RARA (Retinoic Acid Receptor Alpha) genes.
This chromosomal translocation creates a unique fusion gene that disrupts normal cellular differentiation and promotes uncontrolled proliferation of promyelocytes. The detection of this specific genetic abnormality is not only diagnostic but also has profound implications for treatment selection and monitoring therapeutic response.
What Does the Test Detect?
The PML-RARA Gene Rearrangement Test utilizes advanced Real-Time Polymerase Chain Reaction (PCR) technology to identify the presence of the t(15;17) chromosomal translocation. This sophisticated molecular technique offers:
- Detection of PML-RARA fusion transcripts with exceptional sensitivity
- Qualitative assessment of the specific genetic rearrangement
- High specificity for APL diagnosis with minimal false positives
- Rapid turnaround time for critical treatment decisions
Key Genetic Components Analyzed
The test specifically examines the fusion between chromosome 15q22 (PML gene) and chromosome 17q12 (RARA gene), creating the diagnostic PML-RARA fusion protein that drives APL pathogenesis.
Who Should Consider This Test?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Acute Promyelocytic Leukemia, including:
- Patients with unexplained bleeding tendencies or coagulation abnormalities
- Individuals showing abnormal promyelocytes in peripheral blood or bone marrow
- Patients with symptoms of acute leukemia including fatigue, fever, and bruising
- Those with laboratory findings of pancytopenia or specific coagulation disorders
- Individuals requiring confirmation of APL diagnosis before initiating targeted therapy
- Patients undergoing monitoring for minimal residual disease after treatment
Clinical Benefits of PML-RARA Testing
Early and accurate detection of the PML-RARA rearrangement provides numerous clinical advantages:
- Precise Diagnosis: Confirms APL diagnosis with molecular certainty
- Treatment Guidance: Enables targeted therapy with all-trans retinoic acid (ATRA)
- Prognostic Information: Helps assess disease severity and treatment response
- Monitoring Capability: Allows tracking of minimal residual disease
- Rapid Intervention: Facilitates timely treatment to prevent life-threatening complications
- Therapeutic Decision Support: Guides appropriate chemotherapy and supportive care
Understanding Your Test Results
Interpretation of PML-RARA Gene Rearrangement Test results requires careful clinical correlation:
Positive Result
A positive test indicates the presence of the PML-RARA fusion gene, confirming the diagnosis of Acute Promyelocytic Leukemia. This finding should prompt immediate consultation with a hematology-oncology specialist for initiation of appropriate targeted therapy.
Negative Result
A negative result suggests the absence of the specific PML-RARA rearrangement. However, clinical correlation is essential, as other genetic abnormalities may be present in acute leukemia cases.
Clinical Implications
The detection of PML-RARA rearrangement has significant therapeutic implications, as patients typically respond well to differentiation therapy with ATRA and arsenic trioxide, potentially avoiding conventional intensive chemotherapy.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $188 |
| Regular Price | $300 |
Sample Requirements and Processing
Sample Type: 5 mL (3 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
Shipping Instructions: Ship refrigerated. DO NOT FREEZE
Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
Turnaround Time
Samples accepted: Monday, Wednesday, Friday by 9:00 AM
Reports available: Tuesday, Thursday, Saturday
Nationwide Testing Availability
We maintain comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible, reliable genetic testing services for patients nationwide.
Book Your Test Today
Take the crucial step toward accurate leukemia diagnosis and personalized treatment planning. Our experienced molecular diagnostics team is ready to assist you with comprehensive genetic testing services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PML-RARA Gene Rearrangement Test and receive professional guidance from our specialist team.
Early detection through precise genetic testing can significantly impact treatment outcomes and quality of life for patients with Acute Promyelocytic Leukemia. Trust our expertise in molecular diagnostics for reliable, accurate results you can depend on.
