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One test, more answers with Whole Genome Sequencing

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Whole Genome Sequencing is the most advanced testing solution for detecting known and potential disease-causing variants.

Whole Genome Sequencing (WGS) is the most comprehensive test available through Baylor Genetics. It analyzes up to 98% of the human genome, detecting known and potential disease-causing variants that may not be identified on more targeted genetic testing. Additionally, WGS covers both the protein-coding exons and clinically significant non-coding regions of the genome.

As the most comprehensive genetic test available, WGS captures virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, copy number variants, and a comprehensive set of tandem repeat disorders. In addition, WGS also captures variants within the mitochondrial genome which further increases clinical utility.

*A qualified variant means that it meets our prediction algorithm criteria (Splice AI) that RNAseq will provide additional functional information. RNAseq is not currently available as a standalone test.

END YOUR PATIENT’S DIAGNOSTIC ODYSSEY

Getting a diagnosis that explains your patient’s symptoms can be life changing. Results provide treatment options, inform medical management, and open additional research opportunities so you can focus on the best care for your patient.

EARLY DIAGNOSIS FOR PATIENT CARE

  • 32% of affected individuals had changes in medical care1
  • Save an average of $12k – $15k per patient1
  • On average, avoid ~525 days of hospitalization1
  • 3 out of 4 families want answers and are in favor of diagnostic tests2
BAYLOR GENETICS IS COMMITTED TO FINDING ANSWERS FOR YOU AND YOUR PATIENTS

To assist with providing answers, our WGS includes the following features:

  • RNA sequencing (RNAseq), is available for WGS and Rapid WGS (rWGS). It is performed when a qualified variant has been reported and the ordering provider has opted in.* Any findings will be provided as an updated (addendum) report.

Watch our exclusive video: RNAseq: Enhancing Rare Disease Insights from WES & WGS.

Watch Now
Patient Case

Whole Genome Sequencing (WGS)

Whole Genome Sequencing provides a diagnosis and clarifies previous testing from another laboratory.

Read More

REFERENCES:  1. Am J Hum Genet.2021 Jul 1; 108(7): 1231–1238.  2. Child Neurology Foundation 2020 Assessment Survey Summary

Gene Coverage

  • All genes
  • Single nucleotide variants/indels in coding and non-coding regions
  • Copy number variants (CNV)
  • Includes mitochondrial variants
  • Tandem repeat disorders
  • Depth/Coverage: Average 40x genome-wide
  • PCR-free (better CNV)
  • 2 x 150bp Sequencing Length: Better CNV/TRD detection and mapping for complex genomic regions
  • Bioinformatic analysis performed on the newest genome build, GRCh38

Methodology

  • Proprietary-developed bioinformatics pipeline

Indications for Testing

  • Multiple Congenital Anomalies
  • Neurodevelopmental Disorders
  • Intellectual Disability
  • Developmental Delay
  • Failure to Thrive
  • Dysmorphic Features
  • Epilepsy Syndromes
  • Extensive Differential Diagnosis
  • Previous Genetic Testing Uninformative

In the NICU/PICU

  • With written results as early as five days, consider Rapid Whole Genome Sequencing (rWGS) for your patients when a genetic etiology is suspected.
Rapid Trio WGS
Rapid Duo WGS
Rapid Proband WGS
Test Code
1822
1823
1829
Consent
REQUIRED
REQUIRED
REQUIRED
Parental Report Included*
NOT INCLUDED
TAT (days)†
5
5
5
Can Elect to Receive Incidental Finding(s)
Raw Data Available

For rapid testing orders, please email [email protected] at the time samples are sent to the laboratory. This will alert the laboratory so that the patient’s sample can be accessioned quickly. To secure emails that are sent, please add “[Secure]” in the subject line.

The following specimen types are accepted for all WGS orders: blood, buccal swab, cord blood, cultured skin fibroblast, extracted DNA, and saliva. For more information, please click on the “Specimen Requirements” icon further down this page.

* Parental Report is only included for certain test codes and if the parent(s) provide a sample. For Duo Whole Exome Sequencing, only one parent is required to submit a sample.

† The listed TAT is dependent on sample type. Please call our Client Services team at 1-800-411-4363 for further information.
Trio WGS
Duo WGS
Proband WGS
Test Code
1800
1803
1810
Consent
REQUIRED
REQUIRED
REQUIRED
Parental Report Included*
TAT (weeks)†
3
3
3
Can Elect to Receive Incidental Finding(s)
Raw Data Available

The following specimen types are accepted for all WGS orders: blood, buccal swab, cord blood, cultured skin fibroblast, extracted DNA, and saliva. For more information, please click on the “Specimen Requirements” icon further down this page.

* Parental Report is only included for certain test codes and if the parent(s) provide a sample. For Duo Whole Exome Sequencing, only one parent is required to submit a sample.

† The listed TAT is dependent on sample type. Please call our Client Services team at 1-800-411-4636 for further information.

RNA Sequencing

RNA sequencing (RNAseq) is available for WGS and Rapid WGS (rWGS). RNASeq is performed when a qualified variant has been reported and the ordering provider has opted in.* Any findings will be provided as an updated (addendum) report.

*A qualified variant means that it meets our prediction algorithm criteria (Splice AI) that RNAseq will provide additional functional information. RNAseq is not currently available as a standalone test.
†The TAT for RNAseq is calculated from the release date of the WGS report or from date of sample receipt if an additional sample is requested by the laboratory.
Sample Requirements
(if additional sample is required)
  Blood in EDTA
TAT (days)
28†
Report
Provided as an updated
(addendum) report
RNA Sequencing

Watch our exclusive video: RNAseq: Enhancing Rare Disease Insights from WES & WGS

Watch Now

Positive Results
Positive or “abnormal” results mean there is a genetic change related to the patient’s medical issues. Positive results can include the following types of genetic changes related to the patient’s indications:

  • Single nucleotide variants/indels (SNV)
  • Short tandem repeats (STR) for 29 genes
  • Mitochondrial genome variants
  • Copy number variants (CNV)
    • Structural variants (SV)
    • Absence of heterozygosity (AOH)
    • Uniparental disomy (UPD)

Negative Results

Negative results mean no relevant genetic change could be detected using WGS. Genetic testing, while highly accurate, might not detect a change present in the genes tested. This can be due to limitations of the information available about the genes being tested, or limitations of the testing technology.

Results of Uncertain Significance
WGS can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all of these changes cause medical issues. Studies of family members may help resolve the uncertainty. As our understanding of genetics increases, it may also be possible to determine the significance of these variants.

Additional Reporting Options:
Available on an Opt-in Basis

ACMG Secondary Findings
The American College of Medical Genetics (ACMG) has published a series of guidelines for the reporting of these types of medically actionable or secondary findings (including PMID: 34012068). These guidelines include a list of genes, which are updated occasionally, that are considered medically actionable and indicate laboratories should report pathogenic (disease-causing) and likely pathogenic findings in these genes. In accordance with an update to this policy statement (PMID: 25356965), you may choose to opt in to receive this information.

Incidental Findings
Medically actionable variants are changes found in genes known to be associated with disease but not associated with the current symptoms or clinical presentation. These variants are reported as they may cause severe, early-onset disease or may have implications for treatment and prognosis.

Potential clinically significant findings in genes with no known disease association (WGS Trio only)
Rare variants including homozygous, hemizygous, compound heterozygous, and/or de novo variants in candidate genes for which there is limited available evidence of disease association are reported as variants of uncertain significance. Relevant literature is referenced if available. These are considered research findings, and further information would be required to determine the relationship to the patient’s condition.

All it takes is one test to get more answers

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PRODUCT OVERVIEW
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REQUISITION
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Whole Genome Sequencing (WGS) Specimen Requirements

The sample types below are acceptable for all postnatal WGS and Rapid WGS.
TYPE
REQUIREMENTS
SHIPPING CONDITIONS
BLOOD
Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc for adults/children or 3 cc for infants
Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze.
BUCCAL SWAB
Collect with ORAcollect•Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). We highly recommend the sample be collected by a healthcare professional.
Ship at room temperature in an insulated container
by overnight courier. Do not heat or freeze.
CORD BLOOD
Draw blood in an EDTA (purple-top) tube(s) and send 3 cc.
Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze.
CULTURED SKIN FIBROBLAST
Send two T25 flasks at 80-100% confluence.
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
EXTRACTED DNA
Send at least 20μg of extracted DNA (minimal concentration of 50ng/μL; A260/A280 of ~1.7).
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
SALIVA
Saliva should be collected with an Oragene DNA self-collection kit.
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
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Consent Form
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Online Order
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Medical Necessity Form
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Request Test Kit

How It Works:

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Order appropriate testing for your patient.

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The patient’s sample is collected.

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The patient’s sample is sent to Baylor Genetics.

StartingAt5Days

Written results are sent to the physician.

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Discuss the results with the patient.

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More questions? Please contact us by calling 1.800.411.4363.

Performance of Whole Genome Sequencing

A summary of the analytical validation to determine performance of a Whole Genome Sequencing test and implications of testing in the NICU environment. Read the full white paper by clicking here.

Rapid Whole Genome Sequencing (rWGS) As A First-Tier Test For Critically Ill Children With Suspected Genetic Etiology

Dai, H. Platform Presentation at ASHG 2022.

Comparison of positive findings between CMA/exome combo and Whole Genome Sequencing: A clinical lab experience

Zhao, X, et, al. Poster presented at ASHG 2022.

Mitochondrial variants and short tandem repeat expansions detected by clinical whole genome sequencing.

Schulze, K, et, al.  Poster presented at ASHG 2022.

Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing

Liu, P., & Vossaert, L. (2022). Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing. Prenatal diagnosis, 42(6), 686–696.PMID: 35416301.

Best practices for the interpretation and reporting of clinical whole genome sequencing

Austin-Tse, C. A., Jobanputra, V., Perry, D. L., Bick, D., Taft, R. J., Venner, E., Gibbs, R. A., Young, T., Barnett, S., Belmont, J. W., Boczek, N., Chowdhury, S., Ellsworth, K. A., Guha, S., Kulkarni, S., Marcou, C., Meng, L., Murdock, D. R., Rehman, A. U., Spiteri, E., … Medical Genome Initiative* (2022). Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ genomic medicine, 7(1), 27. PMID: 35395838.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Borja, N., Bivona, S., Peart, L. S., Johnson, B., Gonzalez, J., Barbouth, D., Moore, H., Guo, S., Undiagnosed Disease Network, Bademci, G., & Tekin, M. (2022). Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Molecular Genetics & Genomic Medicine, 10(4), e1892. https://doi.org/10.1002/mgg3.1892. PMID: 35247231.

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

Meng, L., Attali, R., Talmy, T., Regev, Y., Mizrahi, N., Smirin-Yosef, P., Vossaert, L., Taborda, C., Santana, M., Machol, I., Xiao, R., Dai, H., Eng, C., Xia, F., & Tzur, S. (2023). Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 25(6), 100830. Advance online publication. PMID: 36939041.