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Genome Sequencing

Clinical Whole Exome Sequencing (CLIA/CAP)

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 signi?cance that follow an appropriate inheritance mode, and closely match the patient’s phenotype.

Optional medically actionable secondary ?ndings (based on the latest ACMG recommendations).

Optional carrier status ?ndings.
Clinical Consultant signs o?.

Variation detection associated with pathogenic and potentially pathogenic clinical phenotypes.

Some variants of uncertain signi?cance that follow an appropriate inheritance mode, and closely match the patient’s phenotype.

Optional medically actionable secondary ?ndings (based on the latest ACMG recommendations).

Optional carrier status ?ndings.
Clinical Consultant signs o?.

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

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