📌 What is the INV(16) Mutation Assay?
A genetic test that detects the inversion of chromosome 16 (INV(16)), a mutation associated with acute myeloid leukemia (AML), specifically AML subtype M4Eo.
Uses Polymerase Chain Reaction (PCR) to qualitatively identify the presence of this mutation.
Helps in the diagnosis, prognosis, and treatment planning for AML patients.
🎯 Purpose of the Test
✅ Confirms the presence of INV(16) mutation in patients suspected of AML.
✅ Aids in diagnosing AML with eosinophilia (M4Eo subtype).
✅ Helps determine prognosis, as AML with INV(16) generally has a favorable response to treatment.
✅ Monitors disease progression and treatment response.
📊 Normal Ranges & Interpretation
🔹 Normal Result: No detectable INV(16) mutation (Negative result).
🔹 Abnormal Result: Presence of INV(16) mutation (Positive result), indicating AML with M4Eo subtype.
📝 Test Procedure
1️⃣ A blood or bone marrow sample is collected.
2️⃣ The sample undergoes PCR-based molecular testing to detect the INV(16) mutation.
3️⃣ Results determine whether the mutation is present or absent.
⚠️ Who Should Get Tested?
🔹 Patients with symptoms of AML, including:
Fatigue, frequent infections, unexplained bruising/bleeding
Anemia, weight loss, swollen lymph nodes
🔹 Individuals with suspected AML M4Eo subtype based on other lab findings.
🔹 Patients undergoing AML treatment to monitor treatment response and minimal residual disease (MRD).
✅ Why is This Test Important?
✔️ Helps in the early and accurate diagnosis of AML (M4Eo subtype).
✔️ Guides treatment decisions, as AML with INV(16) has a better prognosis with proper therapy.
✔️ Assists in disease monitoring and relapse detection.