top of page

Short-Read Sequencing 

OeXome™
Whole Exome Sequencing (WES)

Testing Service

Deep Exome Analysis for Complex Cases

Exons comprise only ~1% of the genome¹ yet harbor 85% of known pathogenic variants². OeXome™ WES offers a high-yield, cost-effective solution for investigating complex genetic conditions where targeted sequencing is most likely to yield meaningful findings. With our self-developed experimental and bioinformatics pipeline, combined with the expertise of our team, we deliver high-quality, reliable results to support clinicians work with confidence.

Visit Technology Transfer Solution

Rare Disease Diagnosis

There are over 8,000 identified rare diseases and about 80% of them are genetic in origin³. Phenotype-based diagnosis is frequently challenging, leading to a "diagnostic odyssey" that can last years. This delay hinders timely management and incurs high healthcare costs. OeXome™ WES can provide the essential genetic basis for definitive clinical diagnosis, prognostic prediction, and precision management.

Recommended for proband/family with

  • Individuals with a confirmed family history of conditions

  • Suspected cases and their relatives

  • Patients presenting atypical disease features

  • Cases of unexplained developmental delay, intellectual disability, neurodevelopmental disorders, or severe psychiatric conditions

  • Clinical presentations indicating multi-gene involvement

  • Undiagnosed cases where prior testing has failed to identify a cause

Prenatal Diagnostics

In fetuses with structural abnormalities, standard testing often leaves questions unanswered. Approximately 32% of cases are confirmed via Karyotype, and an additional 6% via Chromosomal Microarray (CMA)⁴. Recent studies demonstrate that WES significantly expands the diagnostic yield, identifying causative variants in an additional 8.5% – 10% of fetal structural abnormality cases⁴⁻⁵.

Recommended for case with

  • Ultrasound findings of structural malformations

  • Thickened Nuchal Translucency (NT ≥ 3.0 mm)

  • Severe Intrauterine Growth Restriction (IUGR/FGR <10th percentile) or severe fetal anemia

  • Abnormalities such as severe polyhydramnios, oligohydramnios, or hydrops fetalis

  • Recurrent pregnancy loss or products of conception (POC) with unknown cause (Combined WES + CNV-seq is recommended for higher diagnostic rate)

Comprehensive Genomic Coverage

We go beyond the standard exome. OeXome™ provides the most comprehensive coverage in a single test, including :

  • Exome Regions

  • Clinically Relevant Non-Coding Regions: Pathogenicity-defined intronic and regulatory regions (for >360 genes and 600 diseases)

  • Mitochondrial Genome

  • RefSeq Regions

dmWES Upgrade

OeXome™ dmWES expand the analysis to include 13 repeat expansion disorders often missed by standard WES providers. This includes 8 Spinocerebellar Ataxia (SCA), 3 neuromuscular diseases, and 2 chorea.

​Types of Variant Reported

  • SNVs and InDels: Single-nucleotide variants and Insertions/deletions < 50 bp

  • Aneuploidy

  • mtDNA: Mitochondrial SNVs > 1% heteroplasmy

  • WES-CNVs: Exonic copy number variations involving ≥3 consecutive exons

  • AOH/UPD: Absence of Heterozygosity / Uniparental Disomy (available in Trio) in specific regions

  • Repeat Expansions: available in dmWES

OeXome WES technology transfer v2.43.png

Superior Data Quality via Patented Workflow

Data uniformity is just as critical as sequencing depth. OeXome™ utilize a self-developed, patented post-capture PCR-free workflow for:

  • Minimizes amplification bias, error rates, and duplication rates

  • The result in accurate detection, particularly for exon-level CNVs and mosaic samples which require superior data quality

Superior Uniformity, Fewer Gaps

By achieving the best-in-class data uniformity, we eliminate the blind spots, outperforming standard high-depth WES to ensure no critical variant is left behind.

More Details

Clinical Interpretation & Reporting

Powered by our proprietary bioinformatics pipeline and AI-driven prioritization, we istrictly adheres to ACMG guidelines with evidence for reporting the causative variants. Every report undergoes expert review to ensure high sequencing quality is matched with precise clinical interpretation.

  • Phenotype-Driven Analysis: Applied to affected patients and Products of Conception (POC) analysis.

  • Phenotype-Driven and Genotype-Driven Analysis: Applied to prenatal samples. In addition to phenotype-related findings, we screen for high-impact pathogenic variants and report them as Incidental Findings.

Customized insights and flexible opt-in reporting are available upon request.

Further Services and Supports

We support clinicians/labs beyond the report delivery.

  • Free Reanalysis: Available within 3 years of the initial report

  • Data Access: Raw data (BAM, VCF, FASTQ) provided at no extra charge

  • Expert Consultation: Access to our team for phenotype/genotype reporting questions and genetic counseling support

Add-on Services for Enhanced Insights​

Xromate™ CNV-seq

  • A genome-wide approach to identify aneuploidy and large CNVs (>100 kb), including mosaicism, offering a broader view than exon-focused analysis

LRS Panel (Long-Read Sequencing)

  • Resolves difficult-to-map genes, structural variants, and high-homology regions that standard NGS may miss

Confirmation Assays

  • Sanger sequencing, MLPA, and qPCR available for variant confirmation after OeXome™ testing

Leads in Quality: Proficiency Testing

To systematically assess the comparability of clinical WES testing results under routine conditions, the National Center for Clinical Laboratories (NCCL) conducted a proficiency test across 24 participating laboratories. Our laboratories (BerryExon, lab 9 and 10) outperformed other commercial competitors in breadth of coverage, uniformity, and bioinformatic reproducibility.⁶

  • Top Performer: Consistently achieved the best data uniformity (lowest fold-80) and coverage stability (% target >20x)

  • Benchmarked against the ACMG secondary finding gene list, we achieve 95-100% coverage at ≥20x depth across all targets, outperforming the most participating labs

  • Reproducibility: Demonstrated high bioinformatic reproducibility on small variants compared to the NCCL pipeline

Ordering

When considering our send-out sequencing services:

  1. Contact our team for the most up-to-date test details.

  2. Check sample and shipment requirements before sending out to guarantee result quality. Also verify export requirements and your logistics partner.

  3. Contact Xcelom when placing any order along with a completed Test Request and Consent Form, any required QC data and other required document.

Sample Requirements

Peripheral Blood: 2 mL in EDTA tube

Dried Blood Spot (DBS): 3 spots, ≥ 8mm diameter each

gDNA 

**For prenatal cases, please include maternal sample for STR to exclude maternal contamination.

Transport Conditions

2-8℃, arrive within 72 hours

Testing Scope

Proband, Duo, or Trio analysis for affected patients and products of conception (POC) (phenotype-driven analysis), and prenatal samples (phenotype- and genotype-driven analysis).

Turnaround Time

Prenatal WES: 15 working days; General WES: 23 working days

Resources

References:

1. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276.

2. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106(45):19096-19101.

3. Rare genetic diseases. National Human Genome Research Institute. Accessed January 2026. https://www.genome.gov/dna-day/15-ways/rare-genetic-diseases.

4. Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393(10173):758-767.

5. Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393(10173):747-757.

6. Zhang K, Yu L, Lin G, Li J. A multi-laboratory assessment of clinical exome sequencing for detection of hereditary disease variants: 4441 ClinVar variants for clinical genomic test development and validation. Clin Chim Acta. 2022;535:99-107.

bottom of page