CALR Mutation Analysis Deletion or Insertion in Exon 9
Comprehensive Genetic Testing for Blood Disorders
The CALR Mutation Analysis Deletion or Insertion in Exon 9 represents a cutting-edge molecular diagnostic approach for identifying specific genetic mutations associated with myeloproliferative neoplasms (MPNs). This sophisticated test plays a crucial role in modern hematology by detecting abnormalities in the calreticulin gene, which have been identified as key drivers in the development of certain blood cancers and related conditions.
What This Test Measures and Detects
This specialized genetic analysis specifically targets exon 9 of the CALR gene, searching for characteristic insertion or deletion mutations that alter the reading frame and result in a mutant calreticulin protein. The test utilizes advanced Sanger sequencing technology to provide:
- Detection of type 1 and type 2 CALR mutations
- Identification of specific 52-base pair deletions
- Recognition of 5-base pair insertions
- Comprehensive analysis of CALR exon 9 variations
- High-resolution mutation profiling
Who Should Consider This Genetic Test
This CALR mutation analysis is particularly recommended for individuals experiencing:
- Unexplained elevated platelet counts (thrombocytosis)
- Abnormal blood cell production patterns
- Suspected myeloproliferative neoplasms
- Family history of blood disorders
- Patients with JAK2-negative MPNs
- Individuals with bone marrow fibrosis concerns
- Those requiring differential diagnosis of blood cancers
Clinical Benefits of CALR Mutation Testing
Undergoing CALR mutation analysis provides numerous advantages for both patients and healthcare providers:
- Accurate diagnosis and classification of MPN subtypes
- Guidance for targeted treatment selection
- Prognostic information for disease progression
- Monitoring of treatment response over time
- Distinction between reactive and clonal thrombocytosis
- Personalized therapeutic approaches
- Improved risk stratification
Understanding Your Test Results
Your CALR mutation analysis results will fall into one of several categories:
- Positive for CALR Mutation: Indicates the presence of specific genetic changes associated with MPNs, requiring further evaluation and management by a hematologist
- Negative for CALR Mutation: Suggests alternative causes for symptoms, potentially requiring additional testing for other genetic markers
- Variant of Uncertain Significance: May require additional clinical correlation and possibly family studies
All results should be interpreted in consultation with your healthcare provider, who will consider your complete clinical picture, symptoms, and other laboratory findings.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $226 |
| Regular Price | $300 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified laboratories ensures consistent, high-quality genetic testing services with rapid 7-8 day turnaround times.
Sample Collection and Preparation
This test requires either bone marrow aspirate or peripheral blood sample collected in an EDTA Vacutainer (2ml). A physician’s prescription is typically required, though exceptions apply for surgical preparation, pregnancy-related testing, and international travel documentation.
Take Control of Your Health Today
Don’t let uncertainty about genetic factors affecting your blood health continue. Our CALR Mutation Analysis provides the clarity needed for informed medical decisions and personalized treatment strategies. Contact our genetic specialists today to schedule your test and take the first step toward comprehensive hematological assessment.
Book your CALR Mutation Analysis today by calling +1(267) 388-9828 or visiting your nearest GGC DNA testing center. Our genetic counselors are available to answer your questions and guide you through the testing process.
