Find the genetic cause of your patient’s disease. ExomeXtra® generates data where it matters — combining the best of whole exome sequencing, whole genome sequencing, and array CGH in a single test. It detects 20% more disease-causing variants than standard exome diagnostics. One order. One report. More answers.
Is your patient insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
Our Diagnostics Portfolio at a Glance
The Benefits of Our ExomeXtra® at a Glance
The Xtra in ExomeXtra®: Combining the Best of Exome, Genome and Array CGH
Standard exome sequencing captures 85% of known disease-causing variants — but misses the non-coding regions where a significant number of rare disease causes are found today. Whole genome sequencing covers more ground, but sacrifices the depth needed for reliable variant calling in clinically relevant regions. Greater breadth at the cost of sensitivity is not the right trade-off for diagnostic use. Copy number variants add yet another dimension. Deletions and duplications are a well-established cause of rare diseases — but detecting them reliably requires a dedicated approach that neither standard WES nor WGS consistently provides.
ExomeXtra® closes this diagnostic gap: it unites the depth of whole exome sequencing, the reach of whole genome sequencing, and reliable CNV detection — all in a single test. Additionally, it includes relevant infection screening — covering causes that seem genetic but are rooted in an infection.
ExomeXtra® delivers in two ways that really make a difference: more patients diagnosed, and reports that guide your next step.
1. Solve more cases with ExomeXtra®
Detect +20% more disease-causing variants
ExomeXtra® expands the analytical window well beyond standard exome sequencing — and goes deeper than whole genome sequencing. It generates data where it matters, covering known non-coding disease regions, additional variant classes like mosaics, and the mitochondrial genome with the sensitivity required for confident diagnosis. The result: 20% more disease-causing variants detected, based on 2,600 real diagnostic cases. Since many diagnoses require the detection of two variants, this translates to up to 25% more cases solved with ExomeXtra®.
The difference in detail:
Data and methodology:
2. Reports with direct clinical impact
The Right Diagnostic Strategy for Your Patients: Trio ExomeXtra® first
The data is clear: Trio ExomeXtra® delivers the highest diagnostic yield among exome-based approaches — and outperforms standard whole genome sequencing as a first-line test. Compared to index-only analysis, trio diagnostics achieves a 5–15 percentage point increase in diagnostic yield across multiple independent cohorts 1˒2˒3 — while switching from exome to genome sequencing typically adds only 1–5 percentage points4, at the cost of reduced depth and a higher proportion of inconclusive findings. More data does not mean more answers.
When parental samples are unavailable, Single ExomeXtra® matches or exceeds WGS in diagnostic yield for the vast majority of variant classes — while additionally detecting mosaic variants that require sequencing depth beyond the reach of standard whole genome sequencing.
WGS remains a valuable second-line option when structural variants are suspected to be disease-causing — the one variant class outside the scope of ExomeXtra®. For every other diagnostic question, the evidence points in one direction: start with Trio ExomeXtra® to provide answers for your patients.
Frequently Asked Questions
Find answers to the most frequently asked questions about our exome diagnostics below. If your question is not covered here or you would like to discuss the best diagnostic approach for your patient, contact us at diagnostic-support@cegat.com — we are here to help.
About the Diagnostic Approach
Questions Regarding Trio Analysis
Questions Regarding Ordering/Process
Questions Regarding Samples
General Question
Downloads
References
1 Malmgren H, Kvarnung M, et al. (2025) Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting. Front. Genet. 16:1580879. doi: 10.3389/fgene.2025.1580879
2 Farwell, Kelly D. et al. (2015) Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genetics in Medicine (2015), Volume 17, Issue 7, 578 – 586
3 Retterer, Kyle et al. (2016) Clinical application of whole-exome sequencing across clinical indications. Genetics in Medicine, Volume 18, Issue 7, 696 – 704
4 Battke, F., Schulze, M., & Schulte, B. (2024). What Is the Real Diagnostic Benefit of Whole-Genome Sequencing?. Preprints. https://doi.org/10.20944/preprints202412.0023.v1
Our Accreditations
Binding standards guarantee the quality of our work: Our laboratory services are accredited according to CAP/CLIA and DIN EN ISO 15189. You can find further accreditations and certifications here.
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