iPLEX® Pro Exome QC Panel: Improving Accuracy in Exome Sample Testing

In genetic research, especially in exome studies, knowing that you’re working with the right samples is crucial. The iPLEX® Pro Exome QC Panel helps with this by making sure samples are properly identified and suitable for analysis.

Effective Sample Identification

The iPLEX® Pro Exome QC Panel uses a set of 21 SNPs and 3 gender markers to create a unique genetic profile for each sample. This profiling is crucial as it’s estimated that one in every 200 samples might be mixed up, either within the lab or during the collection process. Such mix-ups can lead to incorrect results, potentially damaging the credibility of a lab. The automated report of the panel compares these SNP profiles to generate a “Match” or “Mismatch” result, thereby offering a clear and straightforward method of sample verification.

DNA Quality and Quantity Assessment

Apart from just identifying samples, the iPLEX® Pro Exome QC Panel also checks the quality and quantity  of DNA is in each sample. This is important because about 22.5% of samples don’t work in later tests, due to inadequate DNA quality or quantity. Traditional methods of measuring DNA quality, which are based on absorbance, may not give a clear picture of the true state of amplifiable DNA fragments. The iPLEX® Pro Exome QC Panel addresses this issue by providing a more precise evaluation of DNA quality, ensuring that the samples used for exome analysis are viable and will not lead to wasted efforts.

Monitoring DNA Fragment Size and Integrity

Another key feature of the panel is its ability to monitor the size of DNA fragments, focusing on a range between 100 to 500 base pairs. This capability is important for screening any degradation of the sample, which is a common concern in genetic testing. The panel also measures the number of amplifiable DNA copies within the sample, further contributing to an understanding of its suitability for detailed genetic analysis.

The panel is specifically optimized for use with exome analysis. It targets 21 SNPs located in the exonic regions of the genome, which are regions coding for proteins and are often of particular interest in genetic research. These targeted regions, combined with the gender markers, provide a comprehensive overview of the sample’s identity.

Reducing Errors and Improving Lab Efficiency

By ensuring the integrity and quality of samples, the iPLEX® Pro Exome QC Panel plays a important role in reducing errors in genetic testing. Incorrect results due to sample mix-ups or poor-quality DNA not only lead to wasted time and resources but can also have significant implications in clinical settings. The panel helps to reduce these risks, thereby improving the overall efficiency and reliability of laboratory operations.

User-Friendly and Rapid Results

Designed for ease of use, the panel simplifies the process of sample verification. The automated reporting system provides results that are easy to interpret, reducing the likelihood of human error in result analysis. The panel’s process is rapid, offering results within an 8-hour timeframe.

Summary Reporting for Quality Control

To help in quality control, the panel includes a summary report feature. This report provides an overview of each run, highlighting any unexpected sample matches or mismatches and identifying samples that may have failed quality control.

Conclusion

The iPLEX® Pro Exome QC Panel represents a advancement in the field of genetic testing, particularly in exome analysis. Its ability to accurately identify samples, assess DNA quality and quantity, and control template integrity makes it a great tool for laboratories. By improving the reliability of sample identification and quality assessment, the panel contributes to more accurate and efficient genetic research, ultimately leading to better outcomes in both research and clinical applications.