c-KIT Genetic Mutation Reference Standard (c.1504_1509dup, p.A502_Y503dup)

Product Overview
   

The AI-Edigene® c-KIT p.A502_Y503dup Reference Standard Plus is a genomic DNA reference standard derived from a human genetic background and engineered to contain a specific mutation in the c-KIT gene. This mutation, located in exon 9 of the c-KIT gene, is a six-base pair duplication/insertion, leading to a duplication of alanine 502 and tyrosine 503 in the resulting protein (p.A502_Y503dup).

Gene Background: The c-KIT gene encodes the KIT protein, a type III transmembrane receptor tyrosine kinase that serves as the receptor for stem cell factor (SCF). This gene plays a vital role in cell growth, differentiation, and survival. Specific mutations cause constitutive activation of the KIT receptor, driving tumorigenesis.

Clinical Significance: The c.1504_1509dup mutation is a well-known driver mutation frequently found in gastrointestinal stromal tumors (GIST), mast cell neoplasms, and acute myeloid leukemia (AML). Accurate detection of this mutation is crucial for patient molecular subtyping, prognosis, and guiding the use of targeted therapies like imatinib.

Product Purpose: This standard is designed to serve as a positive control for various c-KIT mutation detection methods (e.g., Next-Generation Sequencing, Sanger sequencing, digital PCR). It is suitable for applications ranging from assay development and validation to routine laboratory quality control.

Product Features

 This reference material undergoes rigorous characterization and quality control to ensure high consistency and reliability across all batches.

Precise Genetic Information

DNA Change: c.1504_1509dupGCCTAT

Protein Change: p.A502_Y503dup

Mutation Type: Missense mutation resulting from an insertion/duplication

Reference Transcript: NM_001093772.1

Chromosomal Position (GRCh37): chr4:55592185_55592186

Defined Genotypic Characteristics

Homozygous Mutation: This standard is homozygous for the mutation, ensuring a clear, unambiguous signal in detection assays, making it ideal for verifying assay sensitivity.

Allelic Frequency: 100%, indicating that all DNA molecules carry the target mutation, providing a perfect reference for quantitative assays.

Authoritative Database Linkage

COSMIC ID: COSM1326. This mutation is cataloged in the renowned Catalogue Of Somatic Mutations In Cancer (COSMIC), confirming its authenticity and clinical relevance in human cancers.

Superior Product Quality

Buffer System: Formulated in a stable Tris-EDTA buffer, protecting DNA integrity for long-term storage and ready-to-use applications.

High Purity and Integrity: Guaranteed through stringent purification processes and DNA electrophoresis quality checks, ensuring the DNA is free from degradation and contaminants.

Sequence Verification: Final confirmation is provided via Sanger sequencing, guaranteeing accuracy at the mutation site.

Storage & Stability: Stable for up to 36 months when stored at 2-8°C, providing users with a sufficient usage window.

Product Advantages

Incorporating this c-KIT mutation standard into your workflow offers multiple benefits:

Accuracy and Reliability:As a technically validated positive control, it effectively rules out false-negative results caused by reagents, instruments, or operational procedures, ensuring data integrity.

Enhanced Reproducibility:Using the same standard across different runs, operators, or laboratories significantly improves the reliability and comparability of results, facilitating multi-center studies.

Accelerated Assay Development & Optimization:It serves as a "gold standard" for validating new detection methods (e.g., NGS panels), primer/probe design, and reaction condition optimization.

Streamlined QC Processes: Integrating this standard into your daily quality control workflow allows for systematic monitoring of assay performance, helping to meet accreditation requirements (e.g., CAP/CLIA).

Time and Cost Efficiency: It eliminates the heterogeneity and ethical considerations associated with using patient samples as controls. It is ready-to-use, significantly improving research efficiency.

Usage

This c-KIT genetic mutation standard is widely applicable in the following scenarios:

Assay Validation:Validating the performance of Laboratory Developed Tests (LDTs) or commercial kits in detecting the c.1504_1509dup mutation.

Internal Quality Control (IQC):Serving as a positive control in every detection run to monitor the entire workflow, from nucleic acid extraction to final data analysis.

Technical Performance Evaluation:Assessing the sensitivity, specificity, and limit of detection (LoD) of different sequencing platforms (e.g., Illumina, Ion Torrent), PCR instruments, or detection technologies.

Personnel Training & Proficiency Testing:Used as a known sample for training new technicians and assessing their competency in detection and analysis.

Scientific Research: Serving as a genotypic reference for cell-based or animal model studies in cancer mechanisms, drug responsiveness, and other basic research.

Why Choose CB-Gene?

Expertise: We specialize in developing molecular diagnostic standards, with a deep understanding of the clinical significance and characteristics of target genes.

Traceability: All provided parameters (e.g., COSMIC ID, GRCh37 position) are linked to authoritative international databases, ensuring information accuracy and full traceability.

Rigorous Quality Control: From raw material selection to the final product, we implement multiple quality checks (purity, concentration, electrophoresis, sequencing) and provide a detailed Certificate of Analysis for download.

Superior Stability: An optimized formulation and clear storage conditions guarantee stable performance throughout the product's shelf life.

Dedicated to Research: This product is clearly labeled "For Research Use Only," focusing on providing professional tools for researchers to advance progress in the field of precision medicine.

FAQ

Is this reference standard derived from a cell line or is it synthetic DNA?

This product is engineered with the specific mutation introduced into a defined human genomic background. This ensures both the authenticity of the genetic context and the precision of the mutant sequence, while avoiding the genetic complexity that can arise from using tumor cell lines.

Can this standard be used for absolute quantification with digital PCR?

Yes. Because it is a homozygous mutant with 100% allele frequency, it is perfectly suited for absolute quantification using digital PCR. It can be used to assess the accuracy of other quantitative methods or to construct standard curves.

How can I confirm the received product matches the expected mutation?

You can download the Certificate of Analysis (CoA) for this specific batch from our website, which includes Sanger sequencing chromatograms, DNA electrophoresis data, concentration, and purity values. We strongly recommend verifying the product with your own methods prior to use, as part of good laboratory practice.

How should the product be stored and handled?

Upon receipt, store the product at 2-8°C. For handling, briefly centrifuge the tube and perform pipetting steps on ice to avoid repeated freeze-thaw cycles. We recommend aliquoting the product for long-term stability

What is the frequency of this mutation in Gastrointestinal Stromal Tumors (GIST)?

Insertion/duplication mutations in c-KIT exon 9 (including the c.1504_1509dup mutation simulated by this product) account for approximately 5-10% of GIST cases and are more common in small intestinal GIST. This mutation type is associated with sensitivity to higher-dose imatinib therapy, making its accurate detection clinically significant.

Technical Data

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If you have any questions, please feel free to contact us at sales@cb-gene.com