Genetic testing, known as DNA testing, allows geneticists to determine bloodlines and diagnose genetic diseases. With the advent of next-generation sequencing (NGS) technologies, whole exome sequencing (WES) is widely used as a cost-effective and accurate method of genetic testing.
Whole exome sequencing (WES) is a sequencing method that employs high-throughput sequencing of exon regions of more than 20,000 genes per individual, that are enriched through sequence capture technology. WES targets all protein-coding regions (~1% of the whole genome) responsible for 85% of known disease-causing variants. It provides molecular diagnosis of genetic diseases and enables the exploration of novel mutations and new pathogenic mechanisms. Compared to whole genome sequencing, WES has the advantage of a greater sequencing depth and delivers more effective data.
For patients with symptoms of genetic disorders, clinical exome sequencing plays an important role in quickly identifying potential variants. Clinical exome sequencing offers a one-step solution for challenging issues, such as diagnosing patients with genetic heterogeneity or atypical presentation, where it is unclear which genes cause specific genetic conditions. The accuracy of clinical-grade sequencing at Novogene is ensured by standardizing each testing step, while the whole process is strictly quality-controlled. Clinical whole exome sequencing at Novogene is validated and performed in our CLIA/CAP/ISO17025 laboratories to achieve the high standards of clinical-grade sequencing, thereby providing precise diagnosis.
- Starting Materials:
DNA, Whole Blood, Saliva, and Buccal Swab
- Sequencing Platform:
Illumina NovaSeq 6000 Platform
- Exome Capture:
Agilent SureSelect Exome Capture/IDT xGen Exome Capture
- Sequencing Coverage:
50X or 100X
- Turnaround Time:
2 Weeks (10 Working Days)
- Quality Assurance:
Performed by Licensed Personnel in Certified Laboratory
FASTQ, BAM, VCF Files, and Interpretation (optional)
- Data Transfer:
FTP, AWS and Data Uploading Services
Clinical Whole Exome Sequencing Service Solutions
Clinical Whole Exome Sequencing Performance Metrics
|Validated Mean Sequencing Depth||103X||≥100X|
|Average Raw Data||13.75 G||≥12 G|
|Base Pairs Covered at ≥20x||≥ 94%||≥ 93%|
|Mapping Rate||≥ 97%||≥ 99%|
|Repeatability||SNVs||≥ 98%||≥ 95%|
|Indels||≥ 88%||≥ 95%|
|Sensitivity||SNVs||≥ 98%||≥ 92%|
|Indels||≥ 90%||≥ 92%|
|Specificity||SNVs||≥ 99%||≥ 99%|
|Indels||≥ 98%||≥ 99%|
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
Gentra Puregene Buccal Cell Kit
DNA Genotek ORAcollect•Dx OCD100/100A
|Saliva||≥ 2 ml||DNA Genotek Oragene•DNA (OG-600)|
|≥ 1μg of purified DNA (CLIA-Validated)
≥ 0.8 μg of purified DNA (ISO17025-Validated)
Volume ≥ 20μL
|Concentration ≥ 20ng/μL|
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