Preimplantation Genetic Testing for Aneuploidy (PGT-A)
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
Clinical Whole Exome Sequencing (cWES)
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Clinical Whole Exome Sequencing (cWES)
The variations in the protein-coding regions (exomes) and their surrounding exome-intron boundaries for more than 20,000 genes in the human genome can be detected at one time.
WES is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders and especially heterogeneous phenotypes
Saliva, Peripheral blood, Blood card, Genomic DNA
Next Generation Sequencing (NGS) technology
This approach can be used to analyze individual samples or family trios (the proband and their parents). Whole exome sequencing (WES) is a powerful tool for identifying genetic variants that may be contributing to a particular phenotype or disease. By targeting and sequencing only the exomes and their boundaries, WES allows for the identification of potentially disease-causing genetic variants in a cost-effective and efficient manner.
In addition to identifying disease-causing mutations, WES can also uncover incidental findings, or variations that are unrelated to chief complaint but may have important health implications for the patient or their family. ACMG has developed a list of 59 genes with potential incidental findings that can be reported back to the patient if the consent is obtained.
BGI has vast experience in exome sequencing and rare disease diagnosis, including exome capturing & sequencing, bioinformatics, variants annotation, and interpretation capabilities.
239,000+ WES samples tested
26,000+ Clinical rare disease samples
80+ Genes discovered by BGI
200+ Papers on rare disease diagnosis
BGI's Experience in Clinical Rare Disease Diagnoseis (based on BGI Internal data as of 2020).
The exomes of 20,000 genes were detected at one time, and more than 5,000 single-gene diseases were analyzed and interpreted, as well as 68 types of micro-deletion and micro-duplication syndromes (supplementary analysis content). In addition, WES can detect structural variants such as copy number variations, allowing for a more complete assessment of genetic variation.
Professional services include powerful information analysis and interpretation by Genelive’s genetic consulting team.
Has completed the sequencing of more than 20,000 cases of whole exomes, published 205 papers related to a single disease in international journals, accumulated rich experience.
Sequencing, interpretation, reporting, and other links, with highly standardized operational procedures and management specifications.
Whole Exome Sequencing Testing is suitable for clinical laboratories. This detection may not cover all possible pathogenic variants in the given genes. Accuracy in genetic testing may require the use of an orthogonal method (e.g., Sanger sequencing) to confirm certain suspected genetic variants. If you have any queries, please contact your genetic consultant.
Turnaround times for specific tests vary as per the table below. TATs are calculated from the time the sample is received and accepted at the laboratory.
| Product Name | Product Code | TAT |
|---|---|---|
| BGI-Xome™ Clinical Whole Exome Sequencing with report (+ CNV) | SDX1001 | 20-30 days |
| BGI-Xome™ Clinical Whole Exome Sequencing with report (+ CNV) Duo | SDX1002 | 20-30 days |
| BGI-Xome™ Clinical Whole Exome Sequencing with report (+CNV) Trio | SDX1003 | 20-30 days |
| BGI-Xome™ Express Clinical Whole Exome Sequencing with report (+CNV) Trio | SDX1004 | 10-15 days |
| BGI-Xome™ Whole Exome Sequencing without report (FastQ) | SDX1005 | 15 days |
| BGI-Xome™ Whole Exome Sequencing without report (VCF) | SDX1006 | 15 days |
Trio – Indicates that three samples need to be tested – mother, father, and child.
Duo – Indicates that two related individuals to be tested– man and woman of a couple.
Genalive Genetic Counselors are available to healthcare providers to help navigate which test is best for their patient.
Genalive offers targeted gene panels specifically designed for common genetic disorders utilizing the Clinical Whole Exome Sequencing. These targeted panels can also be designed based on a specific patient phenotype or a physician request.
Turnaround times for specific tests vary as per the table below. TATs are calculated from the time the sample is received and accepted at the laboratory.
| Product Name | Product Code | TAT |
|---|---|---|
| BGI-Xome™ Targeted Gene Panel (+CNV) | SDX3210 | 15 days |
| BGI-Xome™ Target Disease/Syndrome Panel (+CNV) | SDX1008 | 20-30 days |
| BGI-Xome™ Target Phenotype Panel (+CNV) | SDX1009 | 20-30 days |
Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.
