Mutation Analysis


SUBTYPE:Gene Expression
APPLICATION & SPECIALITY USES:Biomarker DiscoveryCell Therapy/ Regenerative MedicinePersonalized Medicine
Keywords:CNVCopy Number VariationFusionNext-Gen SequencingNGSRT-PCRSingle Nucleotide variationSNV


BioIVT offers muation services to support assay, diagnostic and drug development needs as well as assay validation. We are able to combine ready access to large cohorts of human tissues with expertise in the design and execution of NGS, qRT-PCR and FISH protocols. We can support the determination of SNVs (single nucleotide variants), Indels (Insertion or deletion of nucleotides), Fusions, and CNV (Copy Number Variants) as well as expression changes. qRT-PCR is an effective approach for determining the status of various somatic mutations in human tissue samples. These data aid in the selection of specific subsets of human tissue samples for future use / applications. We have provided such pre-screening services to enable tissue selections for KRAS and EGFR, among other mutations. Using FISH, we generate data that enable characterization of tissues for specific mutations such as HER2 or cMET gene amplifications or ROS/ALK gene rearrangements.

Features & Benefits

  • Fully managed by in-house specialist
  • Supported by large banked tissue specimen inventory with access to specific cohorts as needed
  • Access to mulitple 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