Whole-genome sequencing (WGS)
The most comprehensive genetic test, enabling analysis of the entire human genome – including both coding and non-coding DNA regions. It is used for diagnosing rare genetic disorders when other tests have not identified the cause but a genetic basis is still suspected.
More accurate diagnosis starts with the whole genome
Rare genetic disorders often appear in childhood and can affect multiple body systems – from the nervous system to metabolism. Because symptoms are frequently non-specific and the clinical picture can vary widely, reaching a diagnosis can be difficult and time-consuming.
Whole-genome sequencing makes it possible to analyse all DNA sequences in a single test – including rare and complex variants – and can uncover a diagnosis even when previous tests were uninformative.
How does whole-genome sequencing work?
Whole-genome sequencing (WGS) is the most comprehensive genetic test, allowing analysis not only of protein-coding DNA regions but also non-coding sequences that are often missed when only the exome is examined. This is especially valuable for rare-disease diagnostics when symptoms are non-specific and the cause remains unknown. The test includes:
Analysis of the entire human DNA sequence (the genome)
Coverage of structural variants, copy-number changes, and intronic variants
Mitochondrial DNA evaluation
Use of next-generation sequencing (NGS) methods and AI-based algorithms
Option for reanalysis using continuously updated databases
When the answers are hidden across the entire genome
Whole-genome sequencing enables the investigation of all genetic variants in one test – from common to extremely rare – including structural changes and difficult-to-detect mutations. This is particularly important when symptoms are unclear, the condition remains undiagnosed, and a genetic cause is still suspected.
Broadest genetic insight
The entire human genome and mitochondrial DNA are analysed – allowing detection of both inherited and de novo mutations.
Higher diagnostic yield
WGS typically has a higher diagnostic sensitivity than whole-exome sequencing – especially in cases with non-specific symptoms or complex genetic disorders.
Suitable even after uninformative tests
WGS is often chosen after other genetic tests (e.g., WES) did not provide clear answers, but suspicion of a genetic condition remains.
Support for evaluating family members
With Duo or Trio testing alongside parents, inheritance patterns, mutation origin, and risk for other family members can be assessed more precisely.
When and for whom is the test recommended?
When you need answers where other tests didn’t deliver
Recommended when exome sequencing or other genetic tests were uninformative, but a genetic cause is still suspected.
For non-specific symptoms
Appropriate when clinical features are unclear or involve multiple body systems – neurological, muscular, metabolic, etc.
To avoid prolonged diagnostic searches
May help reach a diagnosis faster, reduce unnecessary additional testing, and enable earlier targeted treatment.
For family-wide evaluation of a genetic condition
Proband, Duo, or Trio formats allow more accurate determination of inheritance patterns and risk for other family members.
WGS reliability: accuracy and quality metrics
Whole-genome sequencing (WGS) covers both the entire nuclear genome and mitochondrial DNA, enabling detection of common and rare variants – including structural variants, copy-number changes, and intronic variants.
99% sequencing coverage across the genome
10,000+ patient database for clinical interpretation
Continuous data reanalysis after a negative result
The most comprehensive genetic diagnostics
Take the whole-genome sequencing (WGS) test and identify the exact cause of rare diseases.
For Specialists
All key information in one place – from analysed regions to test accuracy and clinical value. This section is intended for specialists who want a detailed understanding of the test rationale, structure, and practical applications.
WGS is recommended for patients whose clinical symptoms suggest a genetic disorder, but previous genetic tests – such as whole-exome sequencing (WES) or targeted gene panels – were uninformative. It is especially valuable for complex or syndromic conditions, as well as for patients with non-specific or multi-system symptoms. It should also be considered when there is a mismatch between phenotype and genotype or when an unusual type of genetic variant is suspected.
The test analyses the entire human genome – both coding and non-coding regions. Next-generation sequencing (NGS) is used to detect:
- Single-nucleotide variants (SNVs)
- Small insertions and deletions (InDels)
- Structural variants (SVs)
- Copy number variants (CNVs)
- Mitochondrial DNA variants
Analysis is performed using AI-driven bioinformatics algorithms and continuously updated genetic databases.
Depending on the clinical situation and whether parents can be included, three test designs are offered:
Proband: only the patient’s genome is analysed. Suitable when parental samples are not available or when one individual’s data are sufficient.
Duo: the patient and one biological parent (most often the mother). Helpful for assessing inheritance and confirming or excluding de novo variants.
Trio: the patient and both biological parents – the highest interpretation accuracy, enabling reliable determination of variant origin.