PGnome® - Whole Genome Tests analyze the entire genome, including coding and non‑coding regions, structural variants, select repeat expansions, and the mitochondrial genome — all in a single test.
WGS captures variant types and genomic regions that other methods may miss. When prior testing has been inconclusive or when complex genomic mechanisms are suspected, PGnome helps clinicians move the diagnostic journey forward.
PGnome tests
We offer whole genome sequencing options to support different clinical scenarios: Standard PGnome — a comprehensive whole genome analysis for rare and undiagnosed conditions, and Rapid PGnome — accelerated turnaround for critically ill or inpatient cases. Tests are supported by the same rigorous interpretation standards and clinical expertise.
When should clinicians consider WGS?
Whole genome sequencing may be appropriate for patients with:
- Congenital anomalies, intellectual disability, developmental delay, autism spectrum disorder, and/or unexplained epilepsy1,2,4
- A suspected genetic condition associated with significant genetic heterogeneity5
- Clinical features suggestive of an underlying genetic diagnosis that do not align with a well‑defined syndrome2,4
- Previously unresolved genetic testing, including inconclusive or negative WES results5,6
- Suspected complex structural variants (e.g., inversions or translocations not detected by CMA or WES)6
WGS vs. WES: when genome goes further
Whole exome sequencing remains a powerful diagnostic tool, particularly when disease‑causing variants are expected to lie within protein‑coding regions. However, some clinically relevant variants occur outside the exome — or involve complex genomic changes that require broader analysis.
If you’ve already ordered an exome and your patient remains undiagnosed, the answer may lie in regions beyond the exome.
Whole genome sequencing expands beyond the exome to detect:
Variants in non‑coding and selected regulatory regions
Deep intronic variants that affect splicing or gene expression
Structural variants such as inversions, translocations, and complex rearrangements.
Select repeat expansions
How we analyze and interpret PGnome results
Accurate interpretation is as critical as sequencing itself. Our WGS analysis is driven by the patient’s clinical phenotype and follows rigorous variant classification standards.
PGnome interpretation includes:
- Comprehensive analysis of variants classified as pathogenic, likely pathogenic, and variants of uncertain significance (VUS), with relevance to the reported indication(s)
- Phenotype‑driven filtering strategies to manage the increased variant volume generated by WGS
- Dedicated structural variant analysis and review
- Expert interpretation by experienced laboratory and clinical specialists
- Clearly communicated results to support confident clinical decision‑making
A confirmed genetic diagnosis from WGS testing can:
- Inform targeted treatment or management decisions6-10
- Guide ongoing surveillance and preventive care6-10
- Clarify prognosis and natural history6-10
- Provide accurate recurrence risk information for families6-10
- Help avoid additional invasive or unnecessary testing6-10
- Enable future re-analysis using rich genome‑wide data as variant interpretation evolves — without the need for a new sample
Including parents or family members can significantly enhance diagnostic confidence.1,2,3
Trio testing (proband + parents):
- Improves interpretation of sequence and structural variants
- Enables identification of de novo variants, including de novo structural variants
- Reduces uncertainty
- Increases overall diagnostic yield compared to singleton analysis
Family‑based analysis is strongly recommended for pediatric, critically ill, and undiagnosed disease cases.
Clinical support throughout the diagnostic journey
You don’t have to navigate complex cases alone.
- Access to genetic expertise for case‑level consultation and interpretation support
- Ongoing partnership throughout the diagnostic process
- Post-test genetic counseling available through Genome Medical for patients who do not already have access to a genetics provider
Frequently asked questions
Genome, exome, or panel — choosing the right test
Not every case requires whole genome sequencing. In some scenarios, PGxome® whole exome sequencing or a targeted gene panel may be the most appropriate first step.
We offer a full spectrum of testing options — from focused panels to exome and genome — so you can choose the right approach for each patient.