At PreventionGenetics, we believe genetic testing should do more than generate data. It should help deliver clear direction for providers and answers for patients.
That's why we're excited to introduce the next generation of PGxome – Whole Exome Tests. Designed to combine rigorous scientific analysis with a more approachable testing experience, PGxome delivers analysis across approximately 20,000 protein-coding genes. Enhancements from our prior tests support more comprehensive variant detection, clearer reporting, and greater confidence in clinical decision-making.
Whether you’re evaluating a patient with a suspected genetic condition or searching for answers in a complex diagnostic journey, PGxome tests are designed to help uncover meaningful insights and move care forward with confidence.
Learn more about whole exome sequencing
More comprehensive exome sequencing
PGxome tests provide broad analysis of approximately 20,000 protein-coding genes, with enhanced coverage in clinically important regions to support more comprehensive variant detection.
The updated assay delivers high-quality sequencing performance and supports the detection of a broader range of clinically relevant findings.
In addition, mitochondrial genome sequencing and copy number variant (CNV) detection are available at no additional cost and included within the same report. This integrated approach provides a more complete evaluation of both the nuclear and mitochondrial genomes and may help increase diagnostic yield for appropriate patients.
Expert variant interpretation
After sequencing the exome, we apply a proprietary, multi-layered analysis process to identify variants most relevant to the patient's condition. Leveraging trusted clinical databases, internal evidence, and expert genetic review, we evaluate both established disease-associated genes and rare patient-specific findings that might otherwise be overlooked.
By combining advanced interpretation technology with expert clinical oversight, we help ensure that meaningful genetic insights are interpreted with confidence, enabling more informed decisions for patients and providers.
Report designed for clarity
Comprehensive sequencing and interpretation are only part of the equation. Results should be presented in a way that makes them easier to review, interpret, and discuss with patients.
The redesigned PGxome report was developed using clinician feedback and research to make complex genetic information easier to navigate and understand. Enhancements include:
- A streamlined summary page highlighting key findings
- Improved organization and visual presentation of results
- More approachable language that supports clinical communication
These updates are designed to help providers spend less time navigating reports and more time focusing on patient care.
Key insights from secondary findings
Secondary findings can help providers move from reactive to proactive care by uncovering clinically actionable risks beyond the primary indication for testing.
To align with current clinical standards, secondary findings are now offered as opt-out options rather than opt-in selections for PGxome testing.
Patients and providers may choose:
- ACMG Secondary Findings: Medically actionable findings analyzing genes with established clinical interventions, including numerous genes associated with hereditary cancer syndromes and cardiovascular disease
- Childhood-Onset Disorders Secondary Findings: A curated list of genes for prenatal and pediatric patients
Only pathogenic and likely pathogenic variants are reported in secondary findings.
This approach helps make potentially actionable health information available by default while preserving patient and provider choice.
Support beyond the test result
Genetic testing is about more than identifying variants. Providers need clear guidance, and patients need results they can understand. That's why PGxome is supported by expert laboratory and clinical resources throughout the testing journey.
From test selection to result interpretation, PreventionGenetics supports health care professionals every step of the way. Through our partnership with Genome Medical, patients can also access post-test genetic counseling to better understand their results and next steps.
Important ordering updates
Ready to order PGxome? A few updates have been made to simplify the ordering process.
As part of the PGxome launch, updated test requisition forms (TRFs) have been introduced. Future orders should be submitted using the newest TRFs or through the myPrevent ordering portal.
PGxome test code quick reference
- 16242: Proband
- 16243: Duo
- 16244: Trio
- 16245: Proband
- 16246: Duo
- 16247: Trio
- 16248: Proband
- 16249: Duo
- 16250: Trio
Mitochondrial genome analysis is available with PGxome and PGxome Rapid Tests.
To help simplify the ordering experience, we encourage providers to use the myPrevent ordering portal for online ordering and case management. Providers who have not yet registered can create a myPrevent account to access these tools and streamline future PGxome orders.
More answers. Less uncertainty.
The next generation of PGxome brings together enhanced detection capabilities, more intuitive reporting, and expert support into a single testing experience.
By transforming complex genetic data into clearer clinical direction, PGxome – Whole Exome Tests help providers make more informed decisions while supporting patients and families throughout the diagnostic journey.
Learn more about PGxome tests and discover how PreventionGenetics is helping deliver more answers to patients who need them.
*Data on file. August 2026. PreventionGenetics. Marshfield, WI.