PML-RARA QUALITATIVE – MC049
🧬 Leukemia (APL) Diagnosis (PCR)📋 Test Details
- Report Time: 4th Working Day (Complex Molecular Test).
- Sample Type: Whole Blood (EDTA) or Bone Marrow (EDTA).
- Method: PCR (Polymerase Chain Reaction).
What is the PML-RARA Test?
This is a specialized genetic test used to diagnose a specific type of blood cancer called Acute Promyelocytic Leukemia (APL), which is a subtype of AML.
In APL, two genes PML (on chromosome 15) and RARA (on chromosome 17)—break off and fuse together. This abnormal fusion gene (PML-RARA) blocks the maturation of white blood cells, causing them to build up in the bone marrow.
The Qualitative test gives a simple "Positive" or Negative result to confirm if this mutation is present.
Why is this Test Critical?
APL is treated very differently from other leukemias. While other types require harsh chemotherapy, APL responds exceptionally well to a targeted drug called ATRA (All-Trans Retinoic Acid). This test confirms if the patient is eligible for this life-saving therapy.
APL can cause severe bleeding/clotting issues. Rapid diagnosis via this test allows doctors to start treatment immediately to prevent hemorrhage.
Understanding the Results
- Positive (Detected): The PML-RARA fusion gene is present. This confirms the diagnosis of Acute Promyelocytic Leukemia (APL).
- Negative (Not Detected): The fusion gene is not found. The symptoms may be due to another type of leukemia or blood disorder.
Frequently Asked Questions
The Qualitative test is primarily for initial diagnosis. Once treatment starts, doctors may switch to a Quantitative test to measure exactly how much of the cancer remains (Molecular Remission).
Bone marrow provides the most accurate results for Leukemia. However, if leukemia cells are circulating in the blood, a peripheral blood sample (EDTA) is often sufficient and less invasive.
This is a complex molecular test involving RNA extraction and PCR amplification. It requires high precision and quality checks, which takes time in a specialized genetic lab.
Disclaimer: This is a genetic diagnostic test. Results should be interpreted by a Hematologist or Oncologist.