CALR Mutation Detection Test
Understanding CALR Mutation Detection
The CALR Mutation Detection Test represents a significant advancement in molecular diagnostics for hematological malignancies. This specialized genetic test identifies specific mutations in the calreticulin (CALR) gene, which have been established as crucial biomarkers for certain types of myeloproliferative neoplasms (MPNs). The discovery of CALR mutations has revolutionized the diagnosis and classification of MPNs, providing clinicians with precise molecular markers that enhance diagnostic accuracy and inform treatment strategies.
What Does the CALR Mutation Detection Test Measure?
This sophisticated molecular test specifically detects mutations in exon 9 of the CALR gene, which encodes the calreticulin protein. The test identifies two main types of mutations:
- Type 1 mutations: 52-base pair deletions
- Type 2 mutations: 5-base pair insertions
- Other rare variant mutations affecting the CALR gene
These mutations result in frameshift alterations that produce a mutant calreticulin protein with a novel C-terminal amino acid sequence, which plays a critical role in the pathogenesis of MPNs through abnormal activation of cellular signaling pathways.
Who Should Consider CALR Mutation Testing?
Clinical Indications and Symptoms
The CALR Mutation Detection Test is recommended for individuals presenting with:
- Unexplained persistent elevation in platelet counts (thrombocytosis)
- Suspected essential thrombocythemia or primary myelofibrosis
- Abnormal blood cell counts without clear underlying cause
- Family history of myeloproliferative disorders
- Patients with JAK2-negative MPNs requiring further molecular characterization
- Individuals experiencing symptoms such as fatigue, night sweats, weight loss, or early satiety
- Patients with splenomegaly or hepatomegaly of unknown origin
Benefits of CALR Mutation Detection Testing
Clinical Advantages and Patient Outcomes
Undergoing CALR mutation testing provides numerous significant benefits:
- Accurate Diagnosis: Enables precise differentiation between various MPN subtypes
- Prognostic Information: CALR mutations are associated with more favorable outcomes compared to JAK2 mutations
- Treatment Guidance: Informs targeted therapy decisions and treatment monitoring
- Risk Stratification: Helps assess thrombosis risk and disease progression potential
- Disease Monitoring: Provides baseline for tracking treatment response and disease evolution
- Personalized Medicine: Supports development of individualized treatment approaches
Understanding Your Test Results
Interpreting CALR Mutation Findings
Your test results will fall into one of several categories:
- CALR Mutation Positive: Indicates the presence of CALR gene mutations, confirming diagnosis of CALR-mutated MPN
- CALR Mutation Negative: No detectable CALR mutations present
- Specific Mutation Type Identified: Results will specify whether Type 1, Type 2, or other variant mutations are detected
It’s important to discuss your results with your hematologist or oncologist, who will interpret them in the context of your complete clinical picture, including blood counts, bone marrow findings, and other molecular test results.
Test Information and Pricing
| Test Details | Information |
|---|---|
| Test Name | CALR Mutation Detection Test |
| Discount Price | $150 USD |
| Regular Price | $212 USD |
| Turnaround Time | Sample by Monday 11 AM; Report Saturday |
| Sample Type | 3 ml (2 ml min.) whole blood in 1 Lavender top (EDTA) tube |
| Shipping Instructions | Ship refrigerated. DO NOT FREEZE |
| Required Documentation | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory |
Nationwide Testing Availability
We have diagnostic branches conveniently located across the United States, serving patients 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 nationwide network ensures accessible, high-quality genetic testing services for patients throughout the country.
Take Action for Your Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Early detection of CALR mutations can significantly impact your treatment journey and overall prognosis. Our experienced team is ready to assist you with convenient testing options and comprehensive support throughout the process.
Book Your CALR Mutation Detection Test Today!
Call or WhatsApp: +1(267) 388-9828
Our dedicated healthcare professionals will guide you through the testing process, answer your questions, and ensure you receive the highest quality care and accurate results you can trust for informed medical decisions.
