OptiSeq™ Colorectal Cancer Panel Testing Service

The kit is also available for your own NGS assay

The OptiSeqTM Colorectal Cancer Panel 43-Gene Detection Test is a Research-Use-Only (RUO) product that can be used in research settings to profile CRC patients for different mutations. These studies may provide important information for mechanism of CRC development studies and comparison of mutations developed for different demographic backgrounds.

This test can also be validated in any CLIA labs as a lab developed test for diagnostic purposes. Although this test is not used as a screening assay, it provides good information on actionable mutations that already have target drugs as well as mutations whose target drugs are currently in clinical trials. The latter information could provide great references for physicians who have exhausted treatment options for the patients.

The 43 genes included in the test are listed below. The list contains some genes associated with inherited CRC testing such as APC (for instance in Gardner syndrome) and MLH1MSH2MSH6, and PMS2 genes (often associated with Lynch syndrome). The list also contains genes that are related to somatic mutations in CRC, such as BRAF and KRAS mutations. The 457 alterations in the 43 genes include the following:

  • 437 nucleotide (SNVs) substitutions, insertions, deletions (indels)
  • 11 copy number variants (CNVs)
  • Selected gene rearrangements
  • Genomic signatures including microsatellite instability (MSI) in 9 regions

OptiSeq™ Colorectal Cancer Panel (43 Genes)

AKT1APCARID1AATMBAT25
BAT26BAT34C4BAT40BRAFCTNNB1
EGFRERBB2FBXW7GNASBAT26
KMT2CKMT2DKRASMETMLH1
MLH3MONO27MSH2MSH3MSH6
MTHFRMYCNR21NR22NR24
MTHFRNF1NF2NOTCH1NPM1
NRASPIK3CAPMS1PMS2POLE
PTENPVT1RNF43SMAD4STK11
STK11VEGFAZFHX3

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Colorectal Cancer

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About Colorectal Cancer

As a second cause of death among all cancer types, colorectal cancer (CRC) takes many lives every year. It is fortunate that there are screening tests available that help identifies early cancer when no symptoms are shown. However, still, one-third of the patients did not get screened and many of them missed the opportunity to get diagnosed and treated early. As a result, cancer develops to late stages and the 5-year survival rate is significantly decreased, from 90% at stage I to 11% at stage IV.

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Gene Mutations

Many gene alterations or mutations are found to associated with CRC development. Finding these mutations will benefit the treatment selection of the patients. We have developed a 43-gene NGS panel for detection mutations in the 43 genes that are associated with CRC.

How Does the QuantiVirus™ SARS-CoV-2 Test Kit Work?

The OptiSeqTM Colorectal Cancer Panel 43-Gene Detection Test is an NGS (next generation sequencing) test using 10 ng to 40 ng of cell-free DNA (cfDNA) isolated from plasma. A single 10-ml blood draw will be necessary for the test. A typical workflow of the test, depicted below, includes cfDNA isolation, sequencing library preparation, sequencing (NGS using the Illumina platform), and data analysis.

Streamlined Workflow for OptiSeq™ Pan-Cancer Panel

Step 1: Sample prep & QC

Step 2: Target enrichment

Step 3: Library Preparation & QC & Template

Step 4: Sequencing Run

Step 5: Data Analysis

Step 6: Reporting

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