Genetic Testing
for Rare Diseases Using WGS/WES
for Rare Diseases Using WGS/WES
Experience a trusted diagnostic service
provided by a team of professional medical geneticists and bioinformaticians.
Experience a trusted diagnostic service
provided by a team of professional medical geneticists and bioinformaticians.
- +7,000Rare diseases
- +20,000Genes
- 6weeks
20,000 genes
sequenced by
a single test
sequenced by
a single test
3B-GENOME
3B-EXOME
Scope
Whole genome
Whole exomeReanalysis
Upon request
Daily
Depth-of-Coverage
≥30X
≥100X
Targeted regions covered at >20X
>95%
>98%
Mitochondrial Genome Coverage
>1000X
Limited
TAT
6 weeks
6 weeks
Secondary Finding
Yes
Yes
Variant Types
SNV, INDEL,
CNV, SV1
CNV, SV1
SNV, INDEL,
CNV2
CNV2
- All single nucleotide variants (SNV) and small insertion/deletions (INDEL) are confirmed by Sanger sequencing. Structural variants (SV) including copy number variants (CNV) with exact breakpoints identified are confirmed by Sanger sequencing.
- A subset of SNV and INDEL with low quality as determined by an internal validation study are confirmed by Sanger sequencing. All CNV with exact breakpoints identified are confirmed by Sanger sequencing.
Decoding the genome
The etiology and manifestation of rare genetic diseases are complex. The symptoms may be the same while the diseases are different, or the diseases may be the same while the symptoms are different.
With whole exome sequencing, >99% of the protein-coding regions of the human genome are analyzed, and the variants that show the highest association with the symptoms are interpreted, maximizing diagnostic yield.
WGS/WES vs. Panel
Coverage
While panel testing only covers select genes that are knowns to be associated with certain diseases, WGS/WES testing covers all genes so that all potential variants are identified and interpreted.
While panel testing only covers select genes that are knowns to be associated with certain diseases, WGS/WES testing covers all genes so that all potential variants are identified and interpreted.
Continuous reanalysis
New Symptom, disease, and variant information can be incorporated into reanalysis for undiagnosed patients without the need for additional testing
New Symptom, disease, and variant information can be incorporated into reanalysis for undiagnosed patients without the need for additional testing
(3B-Genome reanalysis provided upon request)
Have a gene or disease of interest?
Go to Gene Browser
Improved diagnostic yield
by advanced interpretation
by advanced interpretation
- Automated variant prioritization system, EVIDENCE
- Variant classification according to the criteria of ACMG guidelines
- Analysis that incorporates phenotypic information
- Continuous reanalysis for undiagnosed patients
- Interpretation and confirmation by team of clinical geneticists
- Follow-up support for clinicians
Improved
diagnostic yield
by automated
reanalysis system
diagnostic yield
by automated
reanalysis system
Why patients remain undiagnosed
Rare disease patients receive diagnoses at a rate of 25~57.5% by WES (Wright CF et al., 2018 , Monies D et al., 2019 , Trujillano D et al., 2017 , Stark Z et al., 2016). More than half of rare disease patients are not diagnosed initially and face the financial burden from additional genetic tests.
Reflect the latest evidence
There are nearly 300 new gene-disease findings every year. Incorporating these new findings into our reanalysis improves the diagnostic rate of undiagnosed patients.
Incorporate new symptoms
Patients' symptoms may change over time or new symptoms may appear. This information is crucial for variant interpretation during reanalysis and can help end their diagnostic odyssey.
3B-Genome reanalysis provided upon request
Testing you can trust
45Countries
200Medical institutions
We have collaborated with more than 200 medical institutions across more than 45 countries* and have together diagnosed more than 10,000 rare disease patients.
In our initial pilot study (N=330), ~43% of patients received diagnoses based on our data after clinical reassessment and family segregation testing (Seo GH et al., 2020).
*As of Jan 2022
In our initial pilot study (N=330), ~43% of patients received diagnoses based on our data after clinical reassessment and family segregation testing (Seo GH et al., 2020).
*As of Jan 2022
A closer look at our report
Variant interpretation
We provide a list of identified variants that may be related to the patient's phenotype. For each variant, detailed information such as its classification and associated diseases are provided.
Secondary findings (optional)
Information on any identified variants of ACMG’s list of 73 genes are provided.
Test specifications
Test information, such as sequencing coverage, depth, and limitations, is provided.
See for yourself:
How 3billion's test works
Order
Sample
transportation
transportation
Genome
sequencing
sequencing
Interpretation
Result
02
Sample
transportation
Prepare and send the patient's sample (buccal swab, blood, or extracted DNA) with the printed requisition form and informed consent form. We provide buccal swab collection kits upon request. If you would prefer to use your own kits, please refer to our
sample preparation guidelines.
03
Genome
sequencing
Once we receive the sample and documents at our lab, the sample is accessioned and DNA is extracted.
04
Interpretation
The DNA is checked with rigorous quality control standards and sequenced, after which variants are prioritized by EVIDENCE.
05
Result
Our team of medical genetics doctor and geneticists confirm and interpret the variants with the patient's symptoms. The results report is delivered to the physician.