NPM1 Mutation Analysis Exon 12 Insertion
Understanding NPM1 Mutation Analysis
The NPM1 Mutation Analysis Exon 12 Insertion test represents a cutting-edge molecular diagnostic tool designed to detect specific genetic alterations in the Nucleophosmin 1 gene. This gene plays a pivotal role in cellular functions, including ribosome assembly, centrosome duplication, and regulation of tumor suppressor pathways. When mutations occur in exon 12 of the NPM1 gene, they can lead to abnormal protein localization and function, significantly impacting blood cell development and contributing to the pathogenesis of acute myeloid leukemia.
What This Test Measures and Detects
This specialized genetic analysis specifically targets and identifies insertions within exon 12 of the NPM1 gene. The test utilizes advanced Sanger sequencing technology to:
- Detect 4-base pair insertions in exon 12 of the NPM1 gene
- Identify specific mutation patterns associated with AML subtypes
- Provide precise genetic information for treatment stratification
- Monitor minimal residual disease in treated patients
- Assess prognosis and predict treatment response
Who Should Consider This Test
The NPM1 Mutation Analysis is particularly important for individuals experiencing symptoms or conditions that may indicate acute myeloid leukemia or related blood disorders:
- Patients with newly diagnosed acute myeloid leukemia
- Individuals experiencing unexplained fatigue, weakness, or pallor
- Patients with recurrent infections or unexplained fever
- Those with abnormal bleeding or bruising tendencies
- Individuals with bone pain or joint discomfort
- Patients with unexplained weight loss or night sweats
- Individuals with abnormal complete blood count results
- Patients undergoing AML treatment monitoring
Clinical Benefits of NPM1 Mutation Testing
Undergoing NPM1 Mutation Analysis provides numerous clinical advantages for both patients and healthcare providers:
- Accurate Diagnosis: Helps confirm AML diagnosis and subtype classification
- Prognostic Information: NPM1 mutations often indicate better treatment response in certain AML subtypes
- Treatment Guidance: Informs chemotherapy and targeted therapy decisions
- Disease Monitoring: Enables tracking of treatment effectiveness and disease progression
- Personalized Medicine: Supports development of individualized treatment plans
- Risk Stratification: Helps determine appropriate intensity of treatment protocols
Understanding Your Test Results
Interpreting NPM1 Mutation Analysis results requires professional medical expertise, but here’s general guidance:
- Positive Result: Indicates presence of NPM1 exon 12 insertion mutation, which may influence treatment decisions and prognosis
- Negative Result: Suggests absence of the specific NPM1 mutation being tested
- Variant of Unknown Significance: May require additional testing or clinical correlation
- Technical Limitations: Results should be interpreted in clinical context with other diagnostic findings
Your healthcare provider will discuss the specific implications of your results and develop an appropriate management plan based on the findings.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | NPM1 Mutation Analysis Exon 12 Insertion |
| Discount Price | $150 USD |
| Regular Price | $200 USD |
| Turnaround Time | 7-8 days |
| Sample Type | Bone Marrow/Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Book Your Test Today
Take the first step toward comprehensive genetic assessment and personalized healthcare. Our experienced genetic counselors and healthcare professionals are ready to assist you with scheduling, sample collection, and result interpretation. Contact us today to schedule your NPM1 Mutation Analysis and gain valuable insights into your genetic health.
Call or WhatsApp: +1(267) 388-9828
Important Note: This test requires a doctor’s prescription for most cases. Prescription requirements may not apply for surgery, pregnancy cases, or individuals planning international travel. Please consult with your healthcare provider to determine if this test is appropriate for your specific situation.
