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    Clinical Diagnostics

    Genetic Testing

    We offer WES panels in the following (but not limited to) disease categories. For the gene list of a specific disease category, please contact us to obtain further information.

    WES Panels Disease Categories

    Panel
    Number of genes
    Panel
    Number of genes
    Ear, Nose & Throat
    199
    Neurology
    2683
    Metabolic Disorders
    512
    Immunology
    483
    Malformations
    637
    Nephrology
    324
    Endocrinology
    248
    Hepatology
    190
    Dermatology
    237
    Pulmonology
    128
    Gastroenterology
    160
    Cardiology
    378
    Ophthalmology
    482
    Muscle
    541
    Hematology
    237
    Skeleton
    529
    Carrier Screening
    398
    Frequently Ordered Panels
    Carrier Screening Panel Gene and Disease List 
    Hematology Panel
    Gene and Disease List 
    Customized Panel
    We also provide the highest level of flexibility and customization for WES panels. Contact us to assess the coverage of genes you are interested in.
    Shipping Instructions

    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
  • Test Options

    Services/Products Bioinformatics Turnaround Time
    Clinical Panels (Proband)
    Medical Report
    28 days
    Clinical Panels (Trio)
    Medical Report
    28 days
    Others
    Contact us for more informations

    About the Medical Report

    Pathogenic and likely pathogenic variants associated with patient’s phenotypes.

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

    Pathogenic and likely pathogenic variants associated with patient’s phenotypes.

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

    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.
  • 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
    Note
    Whole Blood
    3 ~ 5 ml (Minimum ≥ 2 ml)
    K2EDTA tube or ACD(yellow-top) tube,
    Room temperature/ice pack
    6-28℃
    Pediatric Sample ≥ 2 ml
    Pediatric Sample-EDTA (Purple-top) tube
    Buccal Swab
    ≥2 tubes
    Gentra Puregene Buccal Cell Kit
    Saliva
    ≥ 2 ml
    Oragene® OG-D600 collecting tubes
    gDNA
    Send at least 1µg of purified DNA Minimal volume ≥ 20µL
    1.5 ml microcentrifuge tubes
    Dry ice transport
    Minimal concentration ≥ 20ng/µL

     

    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

    More Clinical Diagnostics