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Clinical Diagnostics

Clinical Whole Exome Sequencing (CLIA/CAP/ISO17025)

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.

What is Clinical WES?

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.

Service Features

  • 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
  • Deliverables:
    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

CLIA-Validated ISO17025-Validated
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%

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

Gentra Puregene Buccal Cell Kit

Mawi ISWAB

DNA Genotek ORAcollect•Dx OCD100/100A

Saliva ≥ 2 ml DNA Genotek Oragene•DNA (OG-600)
gDNA
≥ 1μg of purified DNA (CLIA-Validated)
≥ 0.8 μg of purified DNA (ISO17025-Validated)
Volume ≥ 20μL
EP tubes
Concentration ≥ 20ng/μL

Accreditation

Located in Sacramento, CA, United States

Clinical Laboratory Improvement Amendments (CLIA) certified,
CLIA # 05D2146243

Located in Tianjin, China

The College of American Pathologists (CAP) Accredited,
CAP # 9043632

Located in Cambridge, United Kingdom

International Organization for Standardization (ISO) / International Electrotechnical Commission (IEC) Accredited,
ISO/IEC #17025:2017

More about Clinical Services:

Genetic Testing

We offer panels and whole exome sequencing with a diagnostic report for various disease categories. You have the option to expand to the entire exome to locate other genes of interest. For the gene list of a specific disease category, please contact us to obtain further information.

Genomic Profiling

NovoPMTM 2.0 – A comprehensive somatic tumor profiling panel that analyzes 484 genes for clinically important alterations at the DNA level. These genes are relevant for the diagnosis and/or treatment of various solid tumors according to NCCN guidelines and the medical literature.

FFPE RNA-seq

This assay applies the power of next-generation sequencing (NGS) to gene expression profiling of typical clinical samples. Based on the TruSeq RNA Exome Library Prep Kit and Novogene’s in-house bioinformatics pipelines, it provides robust and comprehensive transcriptomic analysis of human RNA isolated from FFPE and other low-quality clinical samples.