Trio ExomeXtra® combines the full analytical power of ExomeXtra® with an additional data dimension: parental genotypes. For patients with complex, heterogeneous, or unspecific symptoms, this delivers the highest diagnostic yield — achieving a 5–15 percentage point increase compared to single-sample analysis.
Is your patient insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
The Benefits of Our ExomeXtra® at a Glance
Our Promise to You
The Diagnostic Benefit of Trio Analysis
By sequencing both parents alongside the index patient, Trio ExomeXtra® enables inheritance analysis across all target regions — dramatically reducing the number of variants to evaluate, and providing additional information for scoring variants as pathogenic or benign. This comparative approach identifies de novo variants, compound heterozygous constellations, and inheritance mechanisms that single-sample analysis cannot detect. The result: a 5–15 percentage point increase in diagnostic yield.
Parental data allows us to determine how a variant was inherited — or whether it arose de novo. This dramatically reduces the number of variants requiring clinical evaluation and enables the detection of constellations that cannot be identified in single-sample analysis.
- De novo — new in the index patient, not present in either parent
- Compound heterozygous — two variants in the same gene on different alleles; each parent carries only one
- X-linked — male index patient is hemizygous, mother is heterozygous for a variant on the X chromosome
- Parental mosaicism — index patient is heterozygous, one parent carries a low-level mosaic for the same variant
- Homozygous — homozygous in the index patient, heterozygous in both parents
Figure 1: Schematic representation of trio exome filtering, which also considers mildly affected parents. Filtering with the parental variants enables, for example, the detection of compound heterozygous variants.
UPD occurs when both copies of a chromosome are inherited from the same parent. They can cause disease through imprinting effects, underlying homozygous pathogenic variants, or low-level mosaic aneuploidies — which can only be confirmed with parental data.
We report all four UPD constellations — maternal heterodisomy, maternal isodisomy, paternal heterodisomy, and paternal isodisomy — covering both entire chromosomes as well as segmental UPDs.
Figure 2: Schematic illustration of the inheritance pattern of uniparental disomy (UPD). UPD occurs when both pairs of chromosomes are inherited from only one parent, which means the other parent’s chromosome for that pair is missing. The figure shows the possible types of UPDs that can occur, which may be inherited maternally (both red) or paternally (both blue). UPDs are also further sub-categorized depending on the constellation; if one chromosome is inherited in a duplicated fashion (isodisomy) or if each chromosomes in the pair is inherited (heterodisomy).
Service Details
Scope of Analysis
- All coding regions
- >46,000 non-coding disease-associated regions (deep intronic, regulatory)
- Non-coding
- RNA genes
- Mitochondrial genome (mtDNA)
- Upstream splice sites
- Mosaic variant detection
- Genome-wide CNV detection
- Uniparental disomy (UPD) detection
- Inheritance pattern analysis — de novo, compound heterozygous, X-linked, parental mosaicism
- Special analysis for mildly affected parents — reduced penetrance, variable expressivity, imprinting effects
- Screening for relevant infections
Medical Report Includes
- All relevant variant types: sequence variants (SNV, indel), small copy-number variants (CNV), mosaic variants, and large aneuploidies — including mosaic variants
- Variants of ACMG classes 3, 4, and 5 — classified and interpreted in the context of your patient’s phenotype
- Variants of uncertain significance (VUS) further classified by likelihood of pathogenic effect
- Inheritance pattern and UPD findings
- Direct recommendations for clinical management and further testing, where applicable
- Assessment of genetic relevance for family planning
Optional Add-On Services
- Analysis of all ACMG genes
- HLA typing
- Pharmacogenetic analysis including dosing information
- Reassessment Service
Sample Report
Our Standard Sample Requirements
- 1 ml–2 ml EDTA blood (recommended sample type)
- Genomic DNA (1 µg–2 µg)
- DBS cards, buccal swabs, or saliva are also possible
Here you can find more information on how to ship your sample safely.
Other sample material sources are possible on request. Please note: In case of insufficient sample quality, the analysis might fail. If you have more than one option of samples, please contact us (diagnostic-support@cegat.com) and we will assist you in choosing the optimal sample for your patient.
Further Information
5 years of ExomeXtra® with Dr. Florian Battke
Webinar: Learn How We Can Help You Solve Complex Patient Cases
Trio exome diagnostics: One of the most powerful tools in genetic diagnostics
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
