Whole exome sequencing (WES)

Synonyms: -

Material:

EDTA blood

TAT:

On request

Method:

NGS

Overview

Enhanced Whole Exome Sequencing (WES) solution is a next generation sequencing (NGS) test used to identify clinically relevant genetic variants across the coding regions of the genome and the complete mitochondrial genome in a single analysis. It is intended for patients with suspected inherited, rare or genetically heterogeneous conditions where a comprehensive genomic assessment is required.

The solution goes beyond standard exome coverage through expanded and clinically prioritised coverage of diagnostically relevant regions, including disease associated genes, splice regions and selected non-coding variants. This enriched design enables more reliable detection and interpretation of clinically relevant variants.

The test enables simultaneous detection of sequence and copy number variants and combines high analytical performance with clinically focused reporting aligned with established interpretation guidelines. This supports a robust diagnostic workflow, delivering high-confidence, clinically relevant results for complex and rare diseases.

Technical and clinical performance

Our enhanced WES combines expanded and clinically prioritised genomic coverage with high analytical performance, enabling reliable detection and interpretation of variants across coding, non-coding and mitochondrial regions relevant to clinical diagnostics.

The assay provides comprehensive analysis of ~20,000 genes, including exon–intron boundaries and clinically relevant non-coding targets, together with full mitochondrial genome sequencing. High and uniform coverage supports robust detection of sequence and copy number variants, while validated bioinformatics pipelines and guideline-aligned interpretation ensure accurate and clinically relevant reporting.

Key features and performance

Parameter	Specification / performance
Genomic coverage	Approximately 20,000 genes, including coding regions and ±20 bp exon–intron boundaries Enhanced coverage of selected clinically relevant non-coding regions; and complete mitochondrial genome sequencing within the same assay
Coverage performance	Mean sequencing depth of ~100× ≥97% of target bases covered at ≥20× >99% coverage of coding regions represented in RefSeq, MANE, CCDS, Ensembl and GENCODE¹
Variant detection	~99.9% sensitivity for SNVs and small indels (<20 bp) and ~91% sensitivity for NGS-based CNVs ¹ Detection threshold of ≥20% variant allele frequency for mosaic and mitochondrial variants, depending on the region, coverage and variant type¹

Limitations: Detection is limited by target design, coverage and validated analytical scope. WES may not reliably detect variants outside targeted regions, deep intronic variants, repeat expansions, balanced or complex structural rearrangements, or low-level mosaicism below the validated detection threshold. Additional or complementary testing may be considered where clinically indicated.

Clinical reporting

Clinical use

Clinical guidelines

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References

Last Update : 06.10.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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