NICU | PICU | Pediatric | Adult
Bring Your Patient Closer to a Diagnosis In One Comprehensive 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.
Delayed diagnosis is detrimental to patients, families, and providers
Early Diagnosis For Patient Care
- 32% of affected individuals had changes in medical care5
- Save an average of $12k – $15k per patient5
- On average, avoid ~525 days of hospitalization5
- 3 out of 4 families want answers and are in favor of diagnostic tests2
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, analyzing up to 98% of the human genome, detecting known and potential disease-causing variants that may not be identified on more targeted genetic testing. Getting a diagnosis that explains your patient’s symptoms can be life changing.
Indication for Testing
- Multiple congenital anomalies
- Neurodevelopmental disorders
- Intellectual disability and/or developmental delay
- Failure to thrive
- Dysmorphic features
- Epilepsy syndromes
- Extensive differential diagnosis
- Previous genetic testing uninformative
Guidelines are Evolving
American College of Medical Genetics and Genomics (ACMG) guidelines recommend WGS and WES as first- or second-tier tests for Congenital Anomalies, Developmental Delay, and Intellectual Disability in pediatric patients7
Other Guidelines
National Society of Genetic Counselors8 (NSGC)
American Epilepsy Society8 (AES)
Delivering More Actionable Diagnostic Answers
RNA sequencing (RNAseq) enhances the diagnostic capability of WGS and WES by further assessing variants associated with splicing and gene expression. Insights from this testing provide functional evidence that can enable reclassification of these variants. Available as a reflex test for WGS and Rapid WGS (rWGS), can help reclassify qualifying variants.
On Demand Webinar
RNAseq: Enhancing Rare Disease Insights from WES & WGS
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
Mitochondrial DNA
WGS also captures variants within the mitochondrial genome which further increases clinical utility
Flexible Sample Options
Blood, buccal swab, cord blood, cultured skin fibroblast, extracted DNA, and saliva
Interpretation and Reports
- Variant interpretation aided by concurrent, trio-based analysis
- Separate comparator report available, and duo and trio sequencing options
| Rapid Trio WGS | Rapid Duo WGS | Rapid Proband WGS | ||||
| Test Code | 1822 | 1823 | 1829 | |||
| Parental Report Included* | Yes | Yes | NOT INCLUDED | |||
| TAT (days)† | 5 | 5 | 5 | |||
| Can Elect to Receive Incidental Finding(s) | Yes | Yes | Yes | |||
| Raw Data Available | Yes | Yes | Yes |
For rapid testing orders, please email rapidtesting@baylorgenetics.com 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 |
Parental Report Included* | Yes | Yes | No |
TAT (weeks)† | 3 | 3 | 3 |
Can Elect to Receive Incidental Finding(s) | Yes | Yes | Yes |
Raw Data Available | Yes | Yes | Yes |
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 (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 |
Watch our exclusive video:
RNAseq: Enhancing Rare Disease Insights from WES & WGS
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.
How to Order
1
Order appropriate testing for your patient
2
The patient’s sample is collected
3
The patient’s sample is sent to Baylor Genetics
4
Written results are sent to the physician
5
Discuss the results with the patient
Resources
Specimen Requirements
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. |
Consent Form – View
More questions? Please contact us by calling 1-800-411-4363
References
- Rare Disease Impact Report: Insights from patients and the medical community. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
- PMID 28759686 (Tan et al 2017 JAMA Pedr)
- PMID 31623871 (Liu et al 2019 Trends Genet);
- Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6;265ra168.
- Am J Hum Genet.2021 Jul 1; 108(7): 1231–1238.
- Child Neurology Foundation 2020 Assessment Survey Summary
- Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
- https://doi.org/10.1002/jgc4.1646