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Genome Sequencing

CLIA/CAP Whole Exome Sequencing

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

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 one who needs Medical Report)
  • All information should be clear and accurate
Billing Information (For America Clients)
  • Institutional billing or patient self-pay

Service Options

About the Medical Report

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