WES is one of the most comprehensive tools available for detecting rare diseases and associated variants in an individual’s DNA. Whole Exome includes all the protein coding regions in the human genome (approximately 20,000 genes), which is believed to cover > 85% of known and potential disease-causing genetic variants.
Who Benefits from WES?
- A genetically heterogeneous disorder
- A long list of differential diagnoses
- An atypical presentation of a genetic disorder
- A suspected genetic diagnosis, but previous genetic testing has been negative
- A need for a cost-effective alternative to whole genome sequencing
WES Performance Metrics
| Mean Sequencing Depth | 103X |
| Average Raw Data | 13.75G |
| Base Pairs Covered at ≥20X | ≥94% |
| Coverage Uniformity | ≥90% |
| Repeatability | ≥98% for SNVs ≥88% for InDels |
| Sensitivity | ≥98% for SNVs ≥90% for InDels |
| Mapping Rate | ≥97% |
Service Features
- Sample Types: Blood, Saliva, Buccal swab, or DNA
- Exome Capture: Agilent Sure Select Human All Exon V6
- Sequencing Platform: Illumina NovaSeq 6000
- Sequencing Read Type: Paired-end 150 bp
Specimen Requirements
We accept whole blood, buccal swab, saliva, and extracted DNA (from whole blood, Buccal swabs, or saliva) for germline WES.
| Specimen Type | Amount & Quality | Collection Tubes |
|---|---|---|
| Whole Blood | 3 ~ 5 ml (Minimum ≥ 2 ml) | EDTA (Purple-top) tube or ACD(yellow-top) tube |
| Buccal Swab | ≥2 tubes | Novogene Buccal Cell Kit / Mawi Kit |
| Saliva | ≥ 2 ml | Oragene® OG-D600 collecting tubes |
|
gDNA
|
Send at least 1µg of purified DNA Minimal volume ≥ 20µL |
EP tubes
|
| Minimal concentration ≥ 20ng/µL |
Requisition Form and Informed Consent
Each specimen must be accompanied by a completed WES Requisition Form signed by the ordering physician
- Informed consent should be signed by the patient (only for the individual who needs the medical report)
- All information should be clear and accurate
Billing Information (For America Clients)
- Institutional billing or patient self-pay
Service Options
| File / Report Types | Sequencing Only | Sequencing + Analysis | Sequencing + Analysis + Interpretation |
|---|---|---|---|
| FASTQ Files | √ | √ | √ |
| Data QC Report | √ | √ | √ |
| BAM Files | × | √ | √ |
| VCF Files | × | √ | √ |
| Medical Report | × | × | √ |
About the Medical Report
Variation detection associated with pathogenic and potentially pathogenic clinical phenotypes.
Some variants of uncertain significance that follow an appropriate inheritance mode, and closely match the patient’s phenotype.
Optional medically actionable secondary findings (based on the latest ACMG recommendations).
Optional carrier status findings.
Clinical Consultant signs off.
Variation detection associated with pathogenic and potentially pathogenic clinical phenotypes.
Some variants of uncertain significance that follow an appropriate inheritance mode, and closely match the patient’s phenotype.
Optional medically actionable secondary findings (based on the latest ACMG recommendations).
Optional carrier status findings.
Clinical Consultant signs off.
Accreditation
Located in Tianjin, China
The College of American Pathologists (CAP) Accredited,
CAP # 9043632
Located in Sacramento, CA, United
States Clinical Laboratory Improvement Amendments (CLIA) certified, CLIA # 05D2146243
