Comprehensive Genomic Analysis
Exome sequencing is a comprehensive genetic test that analyzes the protein-coding regions (exons) of approximately 23,000 genes using Next Generation Sequencing (NGS). Although the exome represents only about 2% of the human genome, it contains an estimated 85% of all known disease-causing genetic variants.
In cases where parents are not available for trio-exome sequencing, single exome sequencing is a powerful diagnostic tool for patients with a suspected genetic disorder such as a rare disease or another genetic condition with monogenic causes. By examining nearly all to all (clinical exome versus whole-exome) disease-associated genes simultaneously, exome sequencing increases the likelihood of identifying the underlying genetic cause compared with targeted gene panel testing usually only covering more common genetic causes. Our Epilepsy-Intellectual Disability-autism spectrum disorder (EPIDASD) gene panel is an exception as it also covers rare epilepsy and intellectual disability syndromes.
An exome genetic test examines nearly all genes known to be associated with human disease (clinical exome) or all annotated genes (whole-exome) in a single analysis. Rather than testing only a limited group of genes, exome sequencing provides a broad and efficient investigation of potential genetic causes.
This comprehensive approach reduces the need for multiple sequential tests and can shorten the time required to reach a diagnosis. The results may help guide treatment decisions, clarify prognosis, and support informed medical management.
Exome sequencing analyzes all protein-coding regions of approximately 20,000 genes simultaneously, making it one of the most comprehensive diagnostic genetic tests currently available, without being as expensive as whole-genome sequencing.
Compared with targeted gene panels, exome sequencing offers:
Whole exome sequencing provides comprehensive analysis of approximately 36.5 Mb of protein-coding genomic regions covering approximately 23,000 genes.
The analysis enables detection of:
Variant interpretation is performed using an in-house bioinformatics pipeline and current clinical databases, following internationally recognized variant classification guidelines.
Sample Requirements:
Blood (2-5 ml EDTA-blood)
DNA (minimum 3 µg)
Saliva (minimum 2mL)
Test Specifications:
Whole exome analysis covering 36.5 Mb of human protein coding regions
Chemistry: Twist Biosystems Human Exome 2.0
Hardware: Illumina Novaseq 6000 Sequencer
Data processing: An in-house bioinformatic pipeline performs variable calling and filtering calling. Based on recent database releases.
Metrics: Average read depth >100-fold. On target coverage,>95% at a >20-fold read depth.
The analysis is limited primarily to protein-coding regions and approximately 10 base pairs flanking exon–intron boundaries, including splice sites.
Non-coding regions (5′ UTR, 3′ UTR, deep intronic regions, and promoter regions) are not routinely analyzed, except for known pathogenic variants. The test does not reliably detect:
For analysis of the FMR1 gene, we recommend the dedicated Fragile X (CGG)n repeat expansion test. For analysis of the CYP21A2, GJB2, and SMN1 genes, we recommend dedicated copy number variant detection by Multiplex Ligation- dependent Probe Amplification (MLPA).
Only variants relevant to the patient’s clinical indication are reported.
By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific study together with the receipt of a sample is considered an order to conduct the analysis.
The results will be ready approximately five weeks after we receive your order.
