CALR Mutation Testing Kit

Qualitative Real-Time PCR Detection of CALR Exon 9 Mutations in Myeloproliferative Neoplasms

The TRUPCR® CALR Mutation Testing Kit is a highly sensitive real-time PCR-based assay developed for the qualitative detection of somatic CALR mutations-specifically Type 1 (52-bp deletion, L367fs*46) and Type 2 (5-bp insertion, K385fs*47)-in genomic DNA isolated from whole blood. Designed for use in patients suspected of Philadelphia chromosome-negative myeloproliferative neoplasms (Ph– MPNs), this CE-IVD certified kit enables fast, accurate, and cost-effective mutation analysis in clinical diagnostics settings.

Molecular Background

Myeloproliferative neoplasms (MPNs) are a group of clonal hematologic malignancies characterized by the overproduction of mature blood cells. These disorders include essential thrombocythemia (ET), primary myelofibrosis (PMF), and polycythemia vera (PV). A subset of these, particularly Ph-negative MPNs, often harbor somatic mutations in key genes involved in cell signaling and hematopoiesis.

One of the most clinically relevant markers in Ph– MPNs is the CALR gene, which encodes calreticulin-an ER-resident chaperone protein critical in calcium homeostasis and glycoprotein folding. Somatic insertions and deletions in exon 9 of CALR are the second most common mutations in these disorders after JAK2 and MPL mutations. Two major types-Type 1 (52-bp deletion, L367fs*46) and Type 2 (5-bp insertion, K385fs*47)-account for the majority of CALR mutations found in patients with ET and PMF.

Detection of CALR mutations is essential for the diagnosis and classification of MPNs, particularly in JAK2/MPL-negative cases, and has prognostic and potential therapeutic relevance.

Assay Performance & Utility

The TRUPCR® CALR Mutation Testing Kit is designed to provide reliable and sensitive detection of the most prevalent CALR mutations in a single PCR run. With a detection limit of 1% mutant allele, the assay supports:

• Early-stage diagnosis in suspected MPN cases
• Differential diagnosis in JAK2/MPL-negative patients
• Risk stratification and monitoring of disease progression

The kit is ideal for routine use in clinical molecular diagnostic labs, offering speed, ease of use, and consistent performance across platforms.

Technical Specifications

This assay uses TaqMan-based real-time PCR chemistry to target the most common CALR mutations in exon 9, offering both high sensitivity and specificity. It requires 50–200 ng of genomic DNA, extracted from whole blood samples.

Results are generated in approximately 90 minutes, and the assay is validated for use on major qPCR instruments such as ABI 7500, Roche LightCycler®, Bio-Rad CFX96™, and others. Reagents are provided in a ready-to-use format to reduce hands-on time and eliminate the need for additional mixing or reagent preparation.

The kit includes all necessary controls-positive control (mutant), negative control (wild-type), and no-template control (NTC)-to ensure reliable interpretation. All components are stored at -20°C, with a shelf life of 12 months from the manufacturing date. The kit is CE-IVD certified and intended for use in certified diagnostic laboratories.