Panel-Ref® gDNA All-in-One Reference Standard Plus

Features

1. The samples are derived from clinically isolated cell lines, which are very close to the characteristics of clinical patients；

2. Covers a variety of cancer-related variants: Lung cancer, breast cancer, colorectal cancer, pancreatic cancer, blood cancer, gastric cancer, etc；

3. Full chromosome coverage, involving all chromosomes except the Y chromosome;

4. There are many types of mutations: SNP, deletion, insertion, CNV, etc.

5. Wide frequency range of variants: 1-100%, and all intervals are involved;

6. Full coverage of mutation types, including UTR regions, introns, exons, missense mutations, synonymous mutations, donor splicing variants, etc.

7. There are many loci, more than 680 loci, all of which have corresponding Cosmic ID and/or dbSNP ID annotations;

8. Variants validated using multiple platforms: digital PCR,425 gene panels, 528 gene panels, and 1000X whole-exome sequencing.Sixteen loci were validated using a 1000x panel from a renowned commercial company; eight loci were validated using ddPCR using the Bio-Rad QX200 and original Bio-Rad reagents; all loci were validated using 500x WES, captured using the IDT xGenExome Research Panel v1.0 and sequenced using HiSeq X-TEN.

9. Scientific gene coverage, more than 400 genes, covering the designs of many well-known panels at home and abroad;

General information

Detailed Data

Product application

1. Laboratory Quality Control and Process Validation

*Validation of New Testing Platforms/Methods: When a laboratory introduces a new sequencer, new test kit, or self-developed test method, it is necessary to test it using a pan-tumor standard with known accuracy to verify that the platform/method can correctly detect all expected mutations.

*Routine Testing Quality Control: A pan-tumor standard should be run simultaneously with each clinical sample or batch tested. If the standard's test results are consistent with expectations, this indicates that the experimental process (from DNA extraction, library preparation, sequencing, to data analysis) is reliable, indirectly verifying the reliability of the clinical sample results tested concurrently. Abnormal results from the standard indicate a potential issue with the batch, requiring investigation and retesting.

*Monitoring Human Operations and Batch-to-Batch Variations: Experiments performed by different operators or at different time points may introduce variability. Regular use of the standard allows monitoring of the impact of these factors on the stability of results.

2. Evaluation and Comparison of Test Performance Metrics

Pan-tumor standards typically contain variations in mutation types and mutation frequencies (i.e., tumor cell fraction, VAF) and can therefore be used to quantitatively evaluate the performance of a test method.

*Sensitivity: The ability to detect low-frequency mutations. For example, if a standard contains mutations with a VAF of 1% or 5%, laboratories can verify whether their methods can consistently detect these low-frequency mutations.

*Specificity: The ability to avoid false positives. The sequence of the standard is known; if the test reports a mutation that is not present in the standard, it indicates contamination or bioinformatics analysis errors.

*Accuracy/Precision: The closeness of the test result to the true value and the consistency of the results between repeated tests.

*Comparison between different products/laboratories: Genetic testing products from different companies or laboratories may be based on different technologies. Using a single, authoritative pan-tumor standard for "blind testing" allows for an objective comparison of the performance of different products, providing a reference for hospitals or patients to select testing services.

3. Development and Standardization of New Biomarkers and Testing Technologies

With the advancement of oncology research, new biomarkers (such as gene fusions, microsatellite instability (MSI), and tumor mutation burden (TMB)) continue to emerge. Pan-tumor standardization also needs to keep pace with the times.

*Key Tools for TMB Standardization: TMB calculation relies on accurately detecting the total number of somatic mutations. Different algorithms and panel sizes can lead to significant variability in TMB calculation results. The use of standards with known TMB values can help calibrate TMB calculations across different platforms and promote standardization.

*Assessing Complex Markers such as MSI and Fusions: Specially designed standards can encompass these complex genomic features and be used to develop and validate corresponding detection algorithms.

*Validating New Technologies: Standards, such as those used in liquid biopsies (ctDNA testing), are crucial for verifying the ability to detect ultra-low-frequency mutations.

4. Compliance and Certification

For diagnostic kit developers and clinical testing laboratories, the use of certified standards is a crucial step in meeting regulatory requirements.

*Product Registration and Application: Performance validation data using standards is required when submitting new product registration applications to regulatory agencies such as the National Medical Products Administration.

*Laboratory Accreditation: Participating in external quality assessments is a prerequisite for a laboratory to obtain clinical testing accreditation. Many external quality assessment programs assess laboratory testing capabilities through the issuance of standards or similar products.