Clinical Whole Exome Sequencing (CLIA/CAP)

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) employs high-throughput sequencing of more than 20,000 genes per individual, 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 allows for 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 are causing the specific genetic condition. The accuracy of clinical-grade sequencing at Novogene is ensured by standardizing each testing step as well as strictly controlling for quality throughout the entire process. Clinical whole exome sequencing at Novogene is validated and performed in our CLIA/CAP laboratories to achieve the high standards of clinical-grade sequencing, thereby providing precise diagnosis.

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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
Validated Mean Sequencing Depth		103X
Average Raw Data		13.75 G
Base Pairs Covered at ≥20x		≥ 94%
Mapping Rate		≥ 97%
Repeatability	SNVs	≥ 98%
	Indels	≥ 88%
Sensitivity	SNVs	≥ 98%
	Indels	≥ 90%
Specificity	SNVs	≥ 99%
	Indels	≥ 98%

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) Volume ≥ 20μL	EP tubes
gDNA	Concentration ≥ 20ng/μL	EP tubes

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

Genomic Profiling

NovoPM^TM 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.