Mutation Screening

SUBTYPE:Gene ExpressionProtein Expression
APPLICATION & SPECIALITY USES:Biomarker DiscoveryCell Therapy/ Regenerative MedicineImmuno-oncologyMicrobiomePersonalized Medicine


A deeper understanding of the pathobiology of cancer has brought into the forefront the importance of tumor mutation status and the critical role these mutations may play in disease progression. Mutation analysis is now being used as a diagnostic tool for diseases beyond cancer,  used in basic research as well as  in drug and diagnostic development. BioIVT performs both standard mutation analysis for lung, melanoma and colon and custom mutation screens on both tissues and biofluids.

As technology advances, scientists will expand their ability to analyze vast amounts of data as well as detect minute amounts of biomarkers. Understanding how miRNAs, metabolomics, and driver mutations can be used for early detection of disease, contribution to disease development/severity as well as effect response to medication and treatment, will result in faster and better diagnosis and treatment options. One of the most important factors in being able to design an assay is having enough of the right samples. BioIVT, with its extensive network of over 200 IRB approved collection centers, is able to partner with you to obtain the samples required for assay development. In addition, we can provide those samples with the associated clinical data necessary to move your research forward.

BioIVT offers custom screening of banked inventory or custom collections using qPCR, Sanger/Pyrosequencing, Next Generation Sequencing (NGS), IHC or FISH. With our ready access to large cohorts of human tissues, we offer the expertise of experimental design, execution and management of your project.

  • qRT-PCR is an effective approach for determining the status of various somatic mutations in human tissue samples. These data aid selection of specific subsets of human tissue samples for future use / applications
  • Sanger/Pyrosequencing provides single nucleotide variations within DNA or RNA or can be used for sequencing gene sections (exons)
  • Next Generation Sequencing (NGS) is effective for determining presence of SNV, CNV or Fusions across multiple genes
  • Immunohistochemistry (IHC) provides useful information to determine protein overexpression
  • FISH generates data that enable characterization of tissues for specific mutations such as HER2 or cMET gene amplifications or ROS or ALK gene rearrangements

Prescreened specimens

BioIVT offers FFPE and frozen tumor specimens of which we test for mutations relevant to cancer research. The tested specimens include:

  • Non small cell lung cancer tumors tested for KRAS and EGFR mutations
  • Melanoma tumors tested for NRAS mutations
  • Colorectal tumors tested for BRAF and KRAS mutations

These specimens are available for immediate shipment and include tumors with both mutated and wild-type status. Furthermore, donor-matched serum and plasma are also available.

Features & Benefits

  • Fully managed by in-house specialist
  • Supported by large banked tissue specimen inventory with access to specific cohorts as needed
  • Ability to source custom collections including microbiome focused matrices
  • Access to multiple platforms:
    • qPCR – SNV, Fusion, Expression changes – Tests specific known variants; confirmation of assays
    • Sanger/Pyrosequencing – SNV – Test sections of genes or short genes, confirmation of assays
    • NGS – SNV, CNV, Fusion – Explore large sections of genome, detection from multiple genes, detection of rare variants, information from multiple mutation types in one assay
    • FISH – CNV, Fusion, Expression changes – Detection of specific gene sequences within chromosomes, identification of genomic status of oncology samples, analysis of gene amplification and mutation
    • IHC – Fusion, Expression changes – Specific known variants or expression changes, does not require DNA or RNA to provide information