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Genomic Assays by Mutations

High-precision workflows for key insights into actionable genomic alterations (AGAs), laying the groundwork for clinical trial success.

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Detect key mutations with ease

Using our expertise in genomics and oncology, CellCarta has developed and validated workflows through which mutational analysis is made simple.

Whether your research relies on commercial assays or requires custom design, our team can adapt to you, ensuring all sample data is precise, accurate, and optimized for your study.

Our in vitro diagnostic (IVD) tests are validated for use in both tissue and liquid biopsy samples, allowing for easy integration into any stage of therapeutic development.

Deletion, Insertion, and Point Mutations

The EGFR gene encodes a receptor tyrosine kinase that plays a key role in cell growth and survival. Oncogenic mutations in EGFR drive cancer development, particularly in non-small cell lung cancer (NSCLC) and other epithelial tumors.

For EGFR assessment, we offer:

  • therascreen EGFR RGQ PCR kit (DNA from FFPE samples, indels in exon 19 and 20, point mutations)
  • cobas(R) EGFR Mutation test (DNA from FFPE and plasma samples, indels in exon 19 and 20, point mutations, semi-quantitative for ctDNA samples)

For details on these assays, download our brochure

The KRAS gene encodes a GTPase that regulates cell proliferation, survival, and cytoskeletal organization. Oncogenic mutations in KRAS allow for persistent signaling and cancer development, particularly in colorectal cancers (CRC) and NSCLC.

For KRAS assessment, we offer:

  • therascreen KRAS RGQ PCR kit (DNA from FFPE samples, mutations in codons 12 and 13)
  • cobas(R) KRAS Mutation test (DNA from FFPE samples, mutations in codons 12,13, and 61)

For details on these assays, download our brochure.

The BRAF gene encodes a kinase that mediates the effects of growth factors like EGFR. Oncogenic mutations in BRAF lead to uncontrolled pathway activation, contributing to many cancers, including melanoma, CRC, ovarian cancer, and thyroid cancer.

For BRAF assessment, we offer:

  • therascreen BRAF V600E RGQ PCR kit (DNA from FFPE CRC tumor tissues, V6000E mutations)
  • cobas(R) BRAF Mutation test (DNA from FFPE samples, V600E mutations)

For details on these assays, download our brochure

The FGFR gene family encodes receptor tyrosine kinases that activate signaling pathways controlling cell growth, survival, and migration. Oncogenic alterations of FGFR contribute to tumor development in cancers such as urothelial carcinoma (UC).

For FGFR assessment, we offer:

  • therascreen FGFR RGQ PCR kit (RNA from FFPE samples, point mutations in exon7, 10, and FGFR-TACC fusion)

For details on these assays, download our brochure

The PI3KCA gene encodes a catalytic subunit of the PI3K enzyme that regulates cell growth, survival, metabolism, and migration. Activating mutations in PI3KCA increases PI3K signaling, driving the development of cancer like hormone-positive breast cancer. CellCarta has options for both solid tumors and plasma samples.

For PI3KCA assessment, we offer:

  • therascreen PIK3CA RGQ PCR kit (DNA from FFPE and plasma samples, mutations in exons 7, 9, 15, 20)

For details on these assays, download our brochure

The EGFR gene encodes a receptor tyrosine kinase that plays a key role in cell growth and survival. Oncogenic mutations in EGFR drive cancer development, particularly in non-small cell lung cancer (NSCLC) and other epithelial tumors.

For EGFR assessment, we offer:

  • therascreen EGFR RGQ PCR kit (DNA from FFPE samples, indels in exon 19 and 20, point mutations)
  • cobas(R) EGFR Mutation test (DNA from FFPE and plasma samples, indels in exon 19 and 20, point mutations, semi-quantitative for ctDNA samples)

For details on these assays, download our brochure

Scientist pipetting samples in a biosafety cabinet.

The KRAS gene encodes a GTPase that regulates cell proliferation, survival, and cytoskeletal organization. Oncogenic mutations in KRAS allow for persistent signaling and cancer development, particularly in colorectal cancers (CRC) and NSCLC.

For KRAS assessment, we offer:

  • therascreen KRAS RGQ PCR kit (DNA from FFPE samples, mutations in codons 12 and 13)
  • cobas(R) KRAS Mutation test (DNA from FFPE samples, mutations in codons 12,13, and 61)

For details on these assays, download our brochure.

Scientist handling samples at an open workbench.

The BRAF gene encodes a kinase that mediates the effects of growth factors like EGFR. Oncogenic mutations in BRAF lead to uncontrolled pathway activation, contributing to many cancers, including melanoma, CRC, ovarian cancer, and thyroid cancer.

For BRAF assessment, we offer:

  • therascreen BRAF V600E RGQ PCR kit (DNA from FFPE CRC tumor tissues, V6000E mutations)
  • cobas(R) BRAF Mutation test (DNA from FFPE samples, V600E mutations)

For details on these assays, download our brochure

Scientist prcessing sample at a workbench.

The FGFR gene family encodes receptor tyrosine kinases that activate signaling pathways controlling cell growth, survival, and migration. Oncogenic alterations of FGFR contribute to tumor development in cancers such as urothelial carcinoma (UC).

For FGFR assessment, we offer:

  • therascreen FGFR RGQ PCR kit (RNA from FFPE samples, point mutations in exon7, 10, and FGFR-TACC fusion)

For details on these assays, download our brochure

Scientists examining samples at microscopes in the laboratory.

The PI3KCA gene encodes a catalytic subunit of the PI3K enzyme that regulates cell growth, survival, metabolism, and migration. Activating mutations in PI3KCA increases PI3K signaling, driving the development of cancer like hormone-positive breast cancer. CellCarta has options for both solid tumors and plasma samples.

For PI3KCA assessment, we offer:

  • therascreen PIK3CA RGQ PCR kit (DNA from FFPE and plasma samples, mutations in exons 7, 9, 15, 20)

For details on these assays, download our brochure

Two scientists working at a laboratory instrument.
Scientist using a pipette for sample processing.

Built for Complexity

If your study is looking to assess multiple mutations, CellCarta offers a selection of validated panels for large-scale analysis. Our panels include:

  • Biofidelity’s Aspyre® Lung (NSCLC PCR assay)
  • Pillar’s oncoReveal CDx (CDx pan-cancer solid tumor IVDR/FDA assay)
  • Illumina’s TSO500 and Comprehensive Assay
  • AmoyDx Pan Lung Cancer qPCR Panel

Tailored Workflows

CellCarta can assess actionable genomic alterations (AGAs) with ease using our key genomics services. Tailored workflows can include digital PCR (dPCR), qPCR, and next-generation sequencing (NGS).

Our experts incorporate cutting-edge technologies to ensure results are consistent and high quality.

Overview of scientists working in an open laboratory.

Comprehensive Panels Highlighted

Pan Lung Cancer qPCR Panel Aspyre® Lung TSO500 Panel TSO Comprehensive Assay
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News

CDx for Key Oncogenes

CellCarta is the first CRO to offer the pan-cancer oncoReveal® panel to support patient management in clinical studies. oncoReveal® is an IVDR and FDA-approved, NGS-based CDx test that produces rapid, clinically actionable insights across a wide range of solid tumors, including NSCLC.

Why CellCarta

Easily integrate mutational analysis into your study using our validated panel offerings.

Deep Scientific Rigor

Vast Assay Offerings

Global Execution

Multi-omic Integration

Regulatory-ready Outputs

Incorporate assays by mutation into your research

Discuss with our team the best way to implement assays for actionable genomic alteration (AGAs) detection to elevate your clinical study.

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Frequently Asked Questions

CellCarta has developed and validated qPCR workflows for key oncogenic targets including EGFR, KRAS, BRAF, FGFR, and PIK3CA. Each workflow is optimized across multiple sample types and assay formats, supporting both targeted single-gene analysis and multi-gene panels such as AmoyDx Pan Lung Cancer and oncoReveal CDx.

Our gene-specific assays are designed to meet the precision requirements of clinical trials and CDx development. Workflows are validated for the sample types and clinical endpoints that matter most to your study.

View our genomics brochure for a list of our available assays. If your target gene is not listed, our team can develop and validate a custom panel to suit your specifications.

Commercial kits available include the Qiagen therascreen suite (EGFR, KRAS, BRAF, FGFR, PIK3CA) and Roche cobas family (EGFR, KRAS, BRAF). These run on validated platforms including the cobas 4800, Rotor-Gene Q, Idylla, and QuantStudio systems.

For broader biomarker coverage, CellCarta also offers NGS-based panels including AmoyDX Pan Lung Cancer qPCR Panel, Aspyre Lung, TruSight Oncology 500, TruSight Oncology 500 ctDNA V2, and the oncoReveal CDx pan-cancer panel.

CellCarta's qPCR workflows are validated for a wide range of sample types including formalin-fixed paraffin-embedded (FFPE) tissue, fresh frozen tissue (FFT), fine needle aspirates (FNA), cell lines, whole blood, plasma, and peripheral blood mononuclear cells (PBMCs).

For liquid biopsy applications, plasma-derived ctDNA can be analyzed for key mutation targets, supporting minimally invasive monitoring in oncology studies.