Whole Exome Sequencing (WES)
Sequencing of the protein-coding regions of the genome to identify the genetic cause of rare diseases, developmental disorders and more.
Order in the portalFrom genetic tests to data analysis, AI and expert consulting, all in one place.
Sequencing of the protein-coding regions of the genome to identify the genetic cause of rare diseases, developmental disorders and more.
Order in the portalA complete view of the genome including coding and non-coding regions, structural variants and CNVs.
Order in the portalDisease-specific panels for cancer, cardiology, neurology, hearing loss and metabolic disorders with deep coverage.
Order in the portalPredicting drug response and tailoring dosage based on each patient’s genetic profile.
Order in the portalNGS data pipelines, variant calling, annotation and ACMG-based classification.
Order in the portalMachine-learning models for variant prioritisation and genotype–phenotype correlation.
Order in the portalClear, clinician-friendly reports with expert genetic counselling.
Request consultationPre- and post-test counselling with a geneticist: pedigree review, family risk assessment and a clear explanation of results for patients and families.
Request consultationSupport for research teams and companies, from problem framing and data preparation to designing, validating and deploying machine-learning models in genomics and life sciences.
Request consultationSee the key differences at a glance, and ask a geneticist for the final choice.
Broader is not always better; in some cases a focused test or karyotype answers the clinical question more directly than a wider assay.
A different class of DNA change may require another method or later re-analysis.
The expected type of genetic change helps determine which method is most suitable.
| Test | Scope | Best fit | Main strength | Important limitation |
|---|---|---|---|---|
| WESWhole Exome SequencingWider | Most protein-coding genes | Rare disorders or multiple symptoms when several genes may be involved. | Covers many relevant genes in a single run without very small custom targeting. | Many non-coding variants, repeats and some CNVs are not comprehensively assessed. |
| WGSWhole Genome SequencingVery broad | Coding and non-coding genome | Complex cases where wide genomic coverage and some structural changes matter. | Broad genome coverage and potential to detect a wider spectrum of variants. | Interpretation is more complex and some findings still need complementary tests. |
| Gene panelSpecific gene groupFocused and smart | From a few genes to a selected panel | When symptoms clearly point to a disease group such as epilepsy, cardiomyopathy or hereditary cancer. | Targeted interpretation, often faster and usually deeper coverage in designed regions. | Genes outside the selected list will not be assessed and performance depends on panel design. |
| KaryotypeChromosome number and structureChromosome-level | Large chromosomal changes visible under microscope | Suspected numerical chromosomal disorders, some large rearrangements, recurrent pregnancy loss or fertility work-up. | Direct view of chromosome number and some large structural rearrangements. | Low resolution for small deletions/duplications and many subtle variants are missed. |
| CMA / Array-CGHChromosomal microarrayGenome-wide CNV | Copy-number gains and losses across chromosomes | Developmental delay, congenital anomalies or selected cases with suspected microdeletions / duplications. | Finds many deletions and duplications too small for karyotype. | Usually does not detect single-nucleotide variants or balanced translocations. |
| Targeted testOne region / family variantHighly focused | A specific region or known familial variant | When a known familial variant exists or a specific gene change is strongly suspected. | Direct, fast and cost-effective confirmation for the exact expected change. | Only evaluates the requested target and will not explain unrelated symptoms. |
Choosing a test should follow review of the history, pedigree and prior results; you can talk to our team for guidance.
Help me choose a testFrom the consultation room to the laboratory and the data desk, we stay with you from the first question to the final report.
From idea to a deployable model; alongside biotech teams, startups and researchers.
Before the test, during result interpretation and in family planning, we are by your side.
A clear, trackable path, and you can follow each step in the portal.
Tell us what you need and a genetic counsellor will recommend an appropriate test or service.
Place the order and upload the clinical form and consent in the doctors’ portal.
Sampling follows the lab guide, then the sample is shipped or collected.
DNA extraction, library preparation and sequencing with quality control at each step.
Bioinformatics analysis, variant classification and review by a genetics specialist.
The report is delivered in the portal, with counselling available afterwards.
Answers to common questions about choosing a test, samples and reports.
Physicians and clinics place orders through the portal. Patients and families can start with the consultation form so we can suggest the right path.
WES covers coding regions, WGS the whole genome and panels a set of genes tied to a disease group. See the comparison table and consult a genetics specialist before making a final choice.
The patient’s clinical details, family history, previous tests and informed consent. The required forms are available in the portal.
The sample type for each test is shown in the comparison table, and a sampling guide is provided after you place the order.
The report lists key findings and variant classifications (pathogenic, likely pathogenic, VUS and so on). A VUS means current evidence is not enough to draw a conclusion and it may be reviewed as knowledge grows.
Not necessarily. No test covers every change; a negative result means no relevant change was found in the regions examined, and further testing may be needed.
Data is encrypted, stored under anonymised IDs and shared with your physician only with your consent.
Approximate turnaround for each test is in the comparison table. Cost depends on the test, so use the consultation form for an exact estimate.
Talk to our genetics specialists and analysis team. The first consultation is free.
Request a free consultation