Cambridge II Syndrome qPCR kit

Cambridge II (SERPINC1) PCR Kit: Advanced Genetic Analysis

The imegen® Cambridge II kit is designed for the detection van de c.1246G>T (p.Ala416Ser) variant in the SERPINC1 gene using real-time PCR technology. This variant is associated with Cambridge II syndrome, a hereditary form of thrombophilia linked to altered antithrombin (AT) function.

Background

The SERPINC1 gene encodes antithrombin, a key regulator of the coagulation cascade. Antithrombin inhibits thrombin and other coagulation factors, helping to maintain the balance between clot formation and prevention.

The Cambridge II variant (p.Ala416Ser, also referred to as A368S) affects the functional activity of antithrombin. This alteration may influence its ability to regulate coagulation processes and is commonly studied in relation to thrombotic risk mechanisms.

Key Features

• Targeted Detection: Enables identification of the c.1246G>T (p.Ala416Ser) variant in the SERPINC1 gene.
• Real-time PCR Technology: Uses sequence-specific oligonucleotides and fluorescent hydrolysis probes for accurate and sensitive detection.
• Validated Components: Includes optimized master mixes to support consistent and reproducible assay performance.
• Platform Compatibility: Suitable for use with standard real-time PCR systems, including commonly used Thermo Fisher platforms.

Kit Components and Storage

• Cambridge II Master Mix: Contains specific oligonucleotides, labeled probes, and reaction components for target detection (store at -20°C).
• General Master Mix: Contains PCR enzymes, buffers, and stabilizers (store at 4°C).

Workflow and Application

The kit is designed for straightforward integration into standard laboratory workflows. It supports the analysis of genomic DNA, typically extracted from peripheral blood, and requires only a small input amount per reaction. The optimized protocol enables efficient and reproducible processing.

Conclusion

The imegen® Cambridge II kit provides a reliable solution for the analysis of genetic variation in the SERPINC1 gene. Its robust design and compatibility with standard laboratory equipment support consistent performance in molecular biology applications.