Introducing PG Discovery

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PreventionGenetics (PG) is pleased to announce PG Discovery, the latest enhancement to our PGxome® whole exome and PGnome® whole genome sequencing tests. With PG Discovery, we will report relevant rare variants in genes with limited evidence of disease association, commonly known as candidate genes. Rare homozygous, hemizygous, compound heterozygous, and/or de novo variants in candidate genes will be reported. Any available literature, such as animal studies, will be referenced in the test report. Further research is required to understand if a human disease association exists. 

At this time, PG Discovery is available as an OPT IN with all standard PGxome/PGnome tests that include both parents and at least one child (e.g., trios, quads). PG Discovery is also available with reanalysis of PGxome Rapid and PGxome Prenatal trios (and quads, etc.). PreventionGenetics offers one reanalysis of our exome and genome tests within three years of the original report at no cost. 

How to order

To add PG Discovery as part of PGxome/PGnome reanalysis (trios only), fill out an exome/genome TRF indicating reanalysis with reference to the patient’s PG-ID and select the OPT IN: PG Discovery checkbox. 

Our exome/genome reports contain a maximum of six sections as shown below. Primary Findings are presented in the first two sections; Secondary Findings in the remaining four.  All four sections of Secondary Findings are individually OPT IN. A full list of all sequence variants will be provided to the ordering physician upon request.

Primary Findings (for diagnosis) (relevant pathogenic, likely pathogenic and uncertain variants)

      • Variants in genes known to be associated with phenotype
      • Variants in genes possibly associated with phenotype

Secondary Findings (if OPTED IN) (relevant pathogenic and likely pathogenic variants only)

      • Recommended 59 Genes: Medically actionable variants from the ACMG recommended list of genes (Kalia et al. 2017. PubMed ID: 27854360)
      • Other Predispositions/Diagnoses: Variants in genes not associated with phenotype but result in a Mendelian disorder 
      • Carrier Status: Carrier status for variants that are causative for recessive disease
      • PG Discovery (available for trios only): Relevant rare variants in candidate genes for which there is limited available evidence

Download a sample report


PGxome whole exome reporting

Coming soon
Mitochondrial genome sequencing option for PGxome and PGnome tests


Kalia S.S. et al. 2016. Genetics in Medicine: Official Journal of the American College of Medical Genetics. Advance online publication. doi:10.1038/gim.2016.190. PubMed ID: 27854360