Familial Mediterranean Fever (FMF) PCR Kit
The Familial Mediterranean Fever (FMF) PCR Detection Kit is a high-performance real-time PCR assay designed for the qualitative detection of MEFV gene mutations associated with FMF in human samples. Based on advanced hydrolysis probe (TaqMan®) qPCR technology, the assay enables sensitive and specific identification of the most clinically relevant FMF-associated polymorphisms. Targeting key mutations within the MEFV gene, the kit supports accurate genetic diagnosis of this hereditary autoinflammatory disorder. An integrated internal control system monitors DNA quality and amplification efficiency, ensuring reliable and reproducible results. With optimized assay chemistry, hot start technology, and compatibility with standard real-time PCR platforms, this kit provides a robust and efficient solution for molecular diagnostics and genetic research.
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This kit in detail
The Familial Mediterranean Fever (FMF) PCR Detection Kit is a high-performance real-time PCR assay designed for the qualitative detection of MEFV gene mutations associated with FMF in human samples. Based on advanced hydrolysis probe (TaqMan®) qPCR technology, the assay enables sensitive and specific identification of the most clinically relevant FMF-associated polymorphisms.
Targeting key mutations within the MEFV gene, the kit supports accurate genetic diagnosis of this hereditary autoinflammatory disorder. An integrated internal control system monitors DNA quality and amplification efficiency, ensuring reliable and reproducible results.
With optimized assay chemistry, hot start technology, and compatibility with standard real-time PCR platforms, this kit provides a robust and efficient solution for molecular diagnostics and genetic research.
- Detection of 12 clinically relevant MEFV mutations
- High specificity for accurate genetic identification
- Integrated internal control for assay validation
- Ready-to-use multiplex workflow for efficient testing
Qualitative PCR Detection of MEFV Gene Mutations
The FMF PCR Detection Kit is an in-vitro diagnostic real-time PCR assay developed for the qualitative identification of MEFV gene polymorphisms associated with Familial Mediterranean Fever. The assay utilizes hydrolysis probe technology to amplify and detect specific mutation targets with high sensitivity and specificity.
The kit includes multiple ready-to-use master mixes covering the most common MEFV mutations, along with internal controls to validate DNA quality and amplification performance.
Molecular Background
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene, which encodes the protein pyrin. Pyrin plays a key role in regulating the innate immune response, particularly in controlling inflammatory pathways.
Mutations in MEFV result in dysregulated inflammation, leading to recurrent episodes of fever, serositis, arthritis, and characteristic skin manifestations. FMF predominantly affects populations from the Mediterranean region and can lead to serious complications such as amyloidosis if untreated.
Early and accurate genetic detection is essential for confirming diagnosis, guiding treatment decisions, and preventing long-term complications.
Assay Performance & Utility
The FMF PCR Detection Kit is designed for reliable detection of multiple MEFV mutations in a single workflow. The assay employs real-time qPCR with hydrolysis probes to ensure precise mutation identification.
Hot start PCR technology minimizes non-specific amplification, while uracil-DNA glycosylase (UDG) reduces the risk of carry-over contamination. The internal control system verifies DNA integrity and detects potential PCR inhibition, supporting confident result interpretation.
Detection is based on fluorescence signals, where mutation-specific amplification is measured across designated channels, while the internal control confirms assay validity.
Technical Specifications
- Assay Type: Qualitative Real-Time PCR (qPCR)
- Target: MEFV gene mutations (FMF-associated polymorphisms)
- Detection Channels: FAM (mutation targets), HEX/Cy5 (internal control)
- Sensitivity: High sensitivity (validated internally)
- Sample Types: Whole blood, EDTA plasma
- Input Material: Extracted DNA
- Technology: One-step qPCR with hydrolysis probe detection
- Compatible Instruments: ABI 7500, QuantStudio series, Bio-Rad CFX, Rotor-Gene Q, LightCycler 480, and equivalent systems
- Master Mix 1a (WT M694, E148, V726)
- Master Mix 1b (Mut M694V, E148Q, Y726A)
- Master Mix 2a (WT M694, R761, M680)
- Master Mix 2b (Mut M694I, R761H, M680I)
- Master Mix 3a (WT P369, A744, A479)
- Master Mix 3b (Mut P369S, A744S, A479L)
- Master Mix 4a (WT M695, M1105, R653)
- Master Mix 4b (Mut M695R, M1105L, R653H)
- FMF DNA control
- WT DNA control
- Nuclease-free water
Datasheets and regulatory documentation
Everything your quality team needs for evaluation and procurement.
Instructions for Use
Frequently paired with this kit
Other assays and instruments lab teams add alongside the Familial Mediterranean Fever (FMF) PCR Kit.
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