One size does not fit all - flexible PGxome options to suit your patients' needs

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We are excited to announce the expansion of PGxomeTM, PreventionGenetics’ whole exome sequencing test! We now offer PGxome Diagnostic for individuals, duos, and trios. We also offer PGxome Health screen, an exome-based test for individuals or couples seeking carrier status and/or susceptibility information for adult onset conditions.


PGxome Diagnostic is intended for use by health care providers who are looking for a genetic diagnosis when the clinical phenotype is unclear and/or when previous test results have been uninformative. This is especially important given that over 50% of patients with genetic diseases are not given a specific diagnosis even after repeated clinical examinations and tests (Shashi et al. 2014).

Ideally, PGxome Diagnostic includes testing of trios (typically the patient and both biological parents) in order to provide the highest probability of identifying a genetic explanation for the patient’s phenotype.  Approximately 20-40% of patients will receive a diagnosis or suspected diagnosis from this testing (Atwal et al. 2014; Iglesias et al. 2014; Farwell et al. 2015).  In cases where trios are not possible, we offer duo and individual PGxomes as well.  The patient and/or patient’s family is also given choices to opt in or opt out of receiving information on particular types of secondary findings. This customization allows us to provide the most valuable and appropriate results for each patient’s needs. 

Trio Pricing: $4,490

Duo Pricing: $3,490

Individual Pricing: $2,490

Sequencing cost to additional family members beyond trio: $990

As part of our PGxome Diagnostic testing, family members tested as part of a duo, trio, etc. are offered the option to obtain their own report for carrier status and/or susceptibility information for adult onset disorders. If a report is desired for any additional family members, the cost per report is $990.

To order testing, see our PGxome Diagnostic Test Requisition Form.


PGxome Health Screen is intended for patients who are basically healthy, but who want to learn their carrier status for recessive diseases and/or their susceptibility to adult onset disorders.

Although we sequence nearly all human genes, we analyze and report sequence variants only in genes that have been proven with high confidence to be involved in Mendelian (also called single gene) disorders (MacArthur et al. 2014). In addition, although we identify and interpret all sequence variants (differences between the patient's sequence and the reference sequence (build hg19)), we report only Pathogenic and Likely Pathogenic variants (Richards et al. 2015). 

Singleton Pricing (sequencing and report): $2,490

Couple Pricing (sequencing and report for each person): $4,490

To order testing, see our PGxome Health Screen Test Requisition Form


What sets us apart? Using NextGen sequencing technology, PGxome assesses almost all genes from the human genome including coding regions and adjacent introns. While this is common for most exome platforms, as an added quality measure, variants identified in the ~3,700 genes known to be involved in Mendelian disorders are first manually reviewed by MD and PhD geneticists who have specialization in specific disease areas to ensure appropriate variant classification.  This specialty-focused approach harnesses the collective knowledge and experience of many Geneticists in collaboration, and through the power of many, we are able to help accurately determine your patient’s diagnosis. For more details regarding our PGxome testing options, click here

Find the right fit with PreventionGenetics’ new PGxome testing options.  Put us to the test.

Coming soon Pharmacogenetic testing will soon be added to PGxome.