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

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

    Optional carrier status findings.
    Clinical Consultant signs off.

    Variation detection associated with pathogenic and potentially pathogenic clinical phenotypes.

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

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

    Optional carrier status findings.
    Clinical Consultant signs off.

    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