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

  • CancerSELECT™ 125

    CancerSELECT™ 125 analyzes a targeted panel of 125 well-characterized genes. Matched tumor/normal or tumor samples are prepared using proprietary methods that accommodate low abundance, poor quality DNA. A proprietary capture design and high coverage next-generation sequencing combined with the VariantDx bioinformatics pipeline allows the detection of single nucleotide variants (SNVs), small indels, amplifications, translocations and microsatellite instability with a high sensitivity and specificity.

    Sample Requirements Matched tumor/normal or tumor samples*
    Sample Types FFPE, blood, and saliva
  • CancerSELECT™ 125–RUO

    CancerSELECT™ 125-RUO analyzes a targeted panel of 125 well-characterized genes. Matched tumor/normal or tumor samples are prepared using proprietary methods that accommodate low abundance, poor quality DNA. A proprietary capture design and high coverage next-generation sequencing combined with the VariantDx bioinformatics pipeline allows the detection of single nucleotide variants (SNVs), small indels, amplifications, translocations and microsatellite instability with a high sensitivity and specificity. In addition to reporting protein domains and biological pathways, further in depth computational analyses allow the differentiation of passenger (unimportant mutations) from oncogenic mutations.

    Sample Requirements Matched tumor/normal or tumor samples*
    Sample Types FFPE, cell lines, blood, saliva, and xenografts

CUSTOM

  • Cancer Whole Genome Analysis-RUO

    Analysis of the whole genome allows for the most comprehensive understanding of somatic (tumor-specific) alterations. The cancer whole genome service evaluates the coding regions of the genome for sequence mutations, small indels and deletions, copy number alterations and translocations.

  • Cancer Bioinformatic Analysis-RUO

    The Cancer Bioinformatic Analysis service applies our patented approaches and proprietary algorithms to analyze next-generation sequencing data Analyses can include the identification of single nucleotide variants, indels, amplifications and translocations. We request that data be provided in FASTQ format.

EXOME

  • 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.

    Sample Requirements Matched tumor/normal or tumor only samples*
    Sample Types FFPE, cell lines, blood, saliva, and xenograft
  • 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

  • PlasmaSELECT™ 64 w/MSI

    PlasmaSELECT™ 64 evaluates a targeted panel of 64 well-characterized cancer genes and analyzes circulating tumor DNA for genetic alterations in cancer, eliminating the need for an invasive biopsy or tumor tissue. Cell-free DNA is extracted from plasma and prepared using proprietary methods that accommodate low abundance sample DNA. Samples are processed using a proprietary capture process, followed by high coverage next-generation sequencing before running through the VariantDx bioinformatic pipeline to allow the identification of single nucleotide variants (SNVs), indels, amplifications, translocations and MSI with high sensitivity and specificity.

    Sample Requirements Whole Blood or Plasma
    Sample Types Two 10 ml streck tubes of whole blood collected and received within 72 hours from time of draw
  • PlasmaSELECT™ 64 w/MSI–RUO

    PlasmaSELECT™ 64 evaluates a targeted panel of 64 well-characterized cancer genes and analyzes circulating tumor DNA for genetic alterations in cancer, eliminating the need for an invasive biopsy or tumor tissue. Cell-free DNA is extracted from plasma and prepared using proprietary methods that accommodate low abundance sample DNA. Samples are processed using a proprietary capture process, followed by high coverage next-generation sequencing before running through the VariantDx bioinformatic pipeline to allow the identification of single nucleotide variants (SNVs), indels, amplifications, translocations and MSI with high sensitivity and specificity. Analyses for sequence mutations or rearrangements can be performed together or separately, depending on the specific alterations of interest. Additional deliverables include protein domains and pathways for identified mutations as well as the application of computational methods to help distinguish between passenger (unimportant mutations) and oncogenic alterations.

    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.