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 Genome Sequencing (cWGS)
The human genome contains 3 billion base pairs and around 20,000 protien coding genes. Whole genome sequencing (WGS) technology detects all the DNA mutations in the genome of the subject, and the detection area is about 100 times larger than the whole exome.
Compared with the whole exome sequencing, WGS can further improve the diagnosis of clinical genetic testing, and reveal genetic disease causes with higher efficiency.
A whole genome test can obtain almost all genetic information of the subject, which has the advantages of wide coverage and good uniformity of genome, considered as the most comprehensive testing solution for rare disease diagnosis.
WGS can simultaneously detect coding area variation (exomes area variation), non-coding regions variation (including introns, promoter region and the variation of intergenic region, etc.), the structural mutations, copy number variation and mitochondrial mutations.
Congenital multisystem abnormalities
Autism spectrum disorders
Growth retardation
Mental retardation
Epilepsy
Fetus with abnormal ultrasonic imaging
Neonates with severe diseases
Difficult diseases requiring differential diagnosis
It can detect both sequence and structural variants in the coding region (exome region), non-coding region (including intron region,promoter region and intergenic region, etc.) and mitochondrial genes.
Genelive provides strong bioinformatics analysis, interpretation and Genetic counseling teams, to provide professional services. BGI has published 205 papers on single gene diseases in international journals.
A single clinical WGS test can obtain a test result almost equivalent to that of clinical whole exome + mitochondrial whole genome + CMA + CNVSeq, shortening the diagnosis cycle of complex diseases, saving time and reducing the cost of comprehensive diagnosis and treatment.
Sequencing, interpretation, reporting with highly standardized operation process and management specifications.
In this method, genomic DNA from subjects' blood or other tissues are used as the detection material. DNA is fragmented to prepare libraries. WGS and mutation detection are carried out using a high-throughput sequencing platform. This method can detect not only the variation of exome and intron region of genes, but also mitochondrial genes variation.
SNV / Indel
Exome CNV
Chromosome level CNV
Mitochondrial genome
Deep Intron
Structure variation
Loss of heterozygosity
Dynamic mutation
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™ Whole Genome Sequencing with report (+CNV+Mitochondrial) | SDX1101 | 35 days |
| BGI-Xome™ Whole Genome Sequencing Trio with report (+CNV+Mitochondrial) | SDX1102 | 35 days |
| BGI-Xome™ Whole Genome Sequencing without report (FastQ) | SDX1105 | 15 days |
| BGI-Xome™ Whole Genome Sequencing without report (VCF) | SDX1106 | 15 days |
Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.
WGS is applicable to all cases where genetic disease is suspected to be the cause of all or part of the patient's symptoms.
This detection may not cover all the possible pathogenic mutations in a given gene.
