🔬 What is the Test?
The NPM1 Gene Mutation Test detects mutations in the Nucleophosmin 1 (NPM1) gene, which is commonly associated with Acute Myeloid Leukemia (AML). NPM1 mutations are found in about 30% of AML cases and play a key role in diagnosis, prognosis, and treatment decisions.
📊 Normal Ranges:
Negative for NPM1 Mutation → Normal (No NPM1-mutated AML detected)
Positive for NPM1 Mutation → Suggests NPM1-mutated AML, influencing treatment approach
(Results should be interpreted along with other genetic markers and clinical findings.)
🎯 Purpose of the Test:
✅ Helps diagnose AML and determine its genetic subtype
✅ Assists in risk stratification and prognosis assessment
✅ Guides targeted treatment decisions
✅ Monitors minimal residual disease (MRD) and relapse risk
✅ Differentiates de novo AML from secondary AML
🩺 When is it Recommended?
🔹 Patients suspected of having AML (abnormal blood counts, fatigue, bleeding, infections)
🔹 To classify AML subtypes for personalized treatment planning
🔹 To predict prognosis (NPM1-mutated AML has a better prognosis if FLT3-ITD is negative)
🔹 For monitoring treatment response and disease progression
📝 How is the Test Done?
1️⃣ Sample Collection – Blood or bone marrow sample is taken.
2️⃣ Laboratory Analysis – PCR (Polymerase Chain Reaction) or NGS (Next-Generation Sequencing) detects NPM1 mutations.
3️⃣ Result Interpretation – Helps classify AML, predict prognosis, and guide therapy.
⚠️ What Do Abnormal Results Mean?
📉 Negative NPM1 Mutation:
No NPM1-mutated AML detected
Other genetic mutations should be evaluated for AML diagnosis
📈 Positive NPM1 Mutation:
Confirms AML subtype (NPM1-mutated AML)
Better prognosis if FLT3-ITD is negative
Regular monitoring required to assess treatment response and relapse risk
📌 Infographic Design Idea:
✔ Medical color scheme (red, blue, and white)
✔ Illustration of the NPM1 gene mutation and AML cells
✔ Flowchart of AML diagnosis and treatment pathway
✔ Table differentiating normal vs. abnormal test results