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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 Clinical Panels (Proband) Clinical Panels (Trio)
Bioinformatics Medical Report (sign off) Medical Report (sign off)
Turnaround Time 28 days 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