Germline (Hereditary) Genetics

Clinical Whole Genome Sequencing (cWGS)

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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.

Clinical Whole Genome Sequencing (cWGS)

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.

Recommendations for application:

Congenital multisystem abnormalities

Autism spectrum disorders

Growth retardation

Mental retardation


Fetus with abnormal ultrasonic imaging

Neonates with severe diseases

Difficult diseases requiring differential diagnosis


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Detection diversity

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.

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Professional team

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.

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Time-saving and efficient

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.

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Standard processing

Sequencing, interpretation, reporting with highly standardized operation process and management specifications.

Product Content

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.

Test Includes

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.

Genalive offers the following cWGS tests:

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.

Suitable Population

WGS is applicable to all cases where genetic disease is suspected to be the cause of all or part of the patient's symptoms.

Technical Limitations

This detection may not cover all the possible pathogenic mutations in a given gene.