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