From Discovery to Actionable Target

Personal Genome Diagnostics (PGDx), founded by internationally recognized leaders in genomic technologies from Johns Hopkins University, provides advanced cancer genome analysis to help researchers and partners identify elusive cancer-related genetic changes.

 

We partner with researchers and pharmaceutical companies to help identify new biomarker targets and to help accelerate biomarker driven drug development. Our vision is to advance the potential of precision medicine for patients worldwide.

  • WHOLE EXOME SEQUENCING
  • BIOMARKER HYPOTHESIS
  • CLINICAL TRIALS

Tissue

TARGETED

  • PGDx elio™ tissue complete IVD

    PGDx elio™ tissue complete is a comprehensive, in-vitro diagnostic, next generation sequencing (NGS) assay that identifies key genomic alterations and guideline supported biomarkers in solid tumors using a 500+ gene panel. The assay identifies clinically actionable and functionally important mutations and alterations across all solid tumor types including microsatellite instability (MSI) status and tumor mutation burden (TMB) to assess potential response to immuno-oncology therapies.

    Sample Requirements Tumor samples
    Sample Types FFPE, DNA
  • PGDx elio™ tissue complete -RUO

    The PGDx elio™ tissue complete - RUO assay detects genetic alterations in formalin-fixed paraffin embedded (FFPE) tissue from 500+ well-characterized cancer genes. These genes are of high clinical or biologic importance and are screened using next generation sequencing at high coverage to identify sequence mutations, including single base substitutions (SBSs) and insertions/deletions (indels), as well as amplifications, translocations, and microsatellite instability (MSI). Sequence mutations are used to extrapolate tumor mutation burden (TMB).

    Sample Requirements Tumor Samples
    Sample Types FFPE or DNA

CUSTOM

  • CancerXOME™ -RUO

    CancerXOME™-RUO captures and analyzes the coding regions of >20,000 genes. Matched tumor/normal or tumor samples are prepared using proprietary methods that accommodate low abundance, poor quality sample DNA. Samples are sequenced at a high coverage and run through the VariantDx pipeline to identify single nucleotide variants (SNVs), small indels and amplifications.



EXOME

  • ImmunoSELECT™-RUO

    ​Neoantigens are a class of immunogens based on the personal, exquisitely tumor-specific mutations found uniquely in each tumor. Combining PGDx’s highly accurate cancer exome analyses (CancerXOME™-RUO ) with in silico neoantigen prediction, ImmunoSELECT™-RUO identifies and prioritizes the most relevant mutation-derived neoantigens.

    Sample Requirements Tumor only or tumor and matched normal*
    Sample Types DNA, FFPE, cell lines, blood, and saliva

Liquid Biopsy

TARGETED

  • PGDx elio™ plasma resolve- RUO

    The PGDx elio plasma resolve assay is a noninvasive, plasma-based targeted cancer gene panel for the detection of alterations in 33 well-characterized cancer genes. These genes are of clinical and biologic importance and are screened using next-generation sequencing at extremely high coverage to identify sequence mutations, gene amplification, translocations, and microsatellite instability contained within circulating tumor DNA (ctDNA). Combined with PGDx’s cancer genome analysis algorithms, this approach allows for the reliable detection and quantification of small fractions of tumor DNA in the plasma of individuals with cancer with high specificity and sensitivity (Mutant allele fraction sensitivity ≥0.50%, depending on locus and alteration type).

    Sample Requirements Whole Blood or Plasma
    Sample Types Whole Blood in EDTA or Streck tubes, frozen plasma, DNA
  • PGDx elio™ plasma complete–RUO

    The PGDx elio plasma complete RUO assay is a noninvasive, plasma-based targeted cancer gene panel for the detection of alterations in 521 well-characterized cancer genes. These genes are of clinical and biologic importance and are screened using next-generation sequencing at extremely high coverage to identify sequence mutations, structural mutations, tumor mutation burden (bTMB) and microsatellite instability contained within cell-free DNA (cfDNA).

    Sample Requirements Whole Blood or Plasma
    Sample Types Two 10 ml tubes of peripheral whole blood; 6-10 ml plasma collected according to PGDx sample preparation instructions (>1-2ml for RUO)

CUSTOM

  • Circulating Tumor DNA (ctDNA) Analyses - RUO

    PGDx will design a custom, target specific assay to detect and quantify small fractions of ctDNA in the plasma. High coverage next-generations sequencing followed by processing through the VariantDx pipeline allows the detection of single nucleotide variants (SNVs), indels, amplifications and translocations in the regions of interest with high sensitivity and specificity.