Custom Solutions

Our custom solutions further the understanding of cancer and facilitate the development of new diagnostics and therapeutics through our pioneering research approaches and novel technologies.


Cancer whole genome analysis

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 (single base and small insertions/deletions) and copy number alterations as well as the entire genome for rearrangements. Further in-depth computational analyses using CHASM, Digital Karyotyping, and other approaches allows the differentiation of passenger (unimportant mutations) from oncogenic mutations.

Cancer genome germline analysis

Cancer Germline Analysis is a process in which DNA from normal cells, typically from blood or saliva, is analyzed for mutations that have been inherited. Such mutations may lead to a predisposition to cancer. Often germline analyses will be performed across a family.

Cancer bioinformatic analysis

The Cancer Bioinformatic Analysis service applies our patented approaches for novel genetic analyses and proprietary data analysis algorithms to analyze next-generation sequencing data generated in a number of formats from other sources. Analysis can include identification of rearrangements, insertions, deletions and copy number changes as well as sequence mutations. Additional in-depth computational analyses applied include CHASM, Digital Karyotyping and other proprietary approaches. We request that data be provided in BAM, FASTQ or export.txt format.

Liquid Biopsy

Whole genome sequencing of ctDNA

Whole Genome Sequencing of ctDNA (Circulating Tumor DNA) employs next-generation paired-end sequencing of cell-free DNA isolated from plasma to identify sequence and chromosomal alterations characteristic of tumor DNA. Such alterations include sequence mutations (single base and small indel), copy number changes (gains and losses of chromosome arms) as well as rearrangements resulting from translocations, amplifications, or deletions.

ctDNA analyses

PGDx will design a custom, target-specific assay to detect and quantify small fractions of ctDNA in the plasma. This targeted sequencing approach allows for the detection of sequence mutations, copy number alterations, and somatic rearrangements in selected genes or regions of interest.