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Baylor Genetics
Whole Genome Sequencing Test

Answers to Guide Patient Care and Outcomes

More Informed Results with Multimodal Data, AI-Enhanced Expert Interpretation, and End-to-End Support

Multimodal Data

Baylor Genetics’ Whole Genome Sequencing includes a range of modalities and analysis methods that extend beyond standard sequencing. This strategy offers a broader analysis and deeper insight into disease mechanisms, helping to inform accurate diagnosis and support clinical care decisions.​

Our multimodal approach begins by detecting variants across 20,000 genes with Whole Genome Sequencing, potentially explaining a patient’s symptoms. This comprehensive view uncovers insights that can lead to a potential diagnosis by examining multiple variant types and lays the groundwork for deeper analysis.

Supplemental targeted testing for WGS adds functional evidence to strengthen the interpretation of patient- specific variants, helping reduce variants of uncertain significance (VUS) and increase diagnostic yield.1,3,7

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Complex SVs like rearrangements can disrupt the normal function of a gene and contribute to a broad range of genetic diseases. SV analysis can provide better clarity for patients than traditional sequencing methods by using Optical Genome Mapping (OGM) for unmatched high-resolution detail.2,3,4,7

Advanced testing strategies, including long-read sequencing (LR), are used to assess and confirm 58 clinically significant STRs.

Methylation analysis of the FMR1 gene can help confirm Fragile X-associated conditions in rare situations where traditional indicators (STR size) do not reflect the patient’s clinical presentation. This analysis evaluates gene expression for functional genomic information to guide patient diagnosis.​

High-depth mtDNA sequencing​ enables sensitive detection of mitochondrial variants, including a mixture of​ healthy and affected mtDNA (heteroplasmy) down to 5%.8 This improves​ identification of mitochondrial disorders, which often present with neurological​ and multi-system features.​

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UPD occurs when both copies of a chromosome or chromosomal region are inherited from the same parent. When parental samples are available, WGS can identify these patterns to help explain imprinting-related conditions.​5

Evaluate hundreds of metabolites with Global MAPS® to assess functional disruptions in biochemical pathways for inborn errors of metabolism. When paired with WGS, it can show how genetic changes may affect patients, helping to clarify uncertain or unexplained findings.​6,7

NOTE: This is ordered as a separate test (Global MAPS®) and is reported separately from WGS​.

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Patient-centered Expert Guidance & Support

Baylor Genetics is committed to quality and delivering a prompt, accurate diagnosis through a clinically validated workflow – integrating AI technology, unique rare disease data sets and a specialized medical/scientific staff.
Artificial Intelligence

Our proprietary analysis pipeline is integrated with an industry leading AI solution to accelerate candidate gene variant prioritization – leveraging globally esteemed databases and curated clinical literature to reveal and support the underlying cause.

Undiagnosed Diseases Network

UDN Database

As the sole sequencing core for the Undiagnosed Disease Network (UDN), we can utilize rare disease data from previously uncharacterized conditions to enable deeper understanding and more definitive diagnostic support in unique situations.

Baylor College of Medicine

Baylor College of Medicine

Unique to Baylor Genetics, our Medical Directors are ABMGG-certified faculty from Baylor College of Medicine (BCM), bringing deep clinical expertise and direct ties to rare disease researchers. Every clinical report is reviewed and signed off by BCM medical directors, ensuring an added layer of expert oversight and quality assurance unmatched in the industry. This close collaboration reinforces our commitment to delivering the highest standard of genetic testing.

Research

For 45 years, Baylor Genetics has been at the forefront of genetic testing, empowering patients and leading from the forefront of genomic research, with publications in the New England Journal of Medicine, Genome Medicine, and other highly respected journals. We routinely present at scientific conferences including American College of Medical Genetics and Genomics, American Society of Human Genetics, and National Society of Genetic Counselors.

Our full-service team of clinical geneticists, genetic counselors and client service professionals work alongside you – from order to report – ensuring fast, prompt and reliable support throughout the testing journey.
Patient Financial Assistance Team

Dedicated support to guide patients and their family with understanding insurance coverage, explore qualifying financial support options and explain any out of pockets costs.

Post-Test Genetic Counseling

Patients who receive a positive or uncertain result with WES may qualify for genetic counseling with a certified genetic counselor who can help explain test results. (Restrictions apply)

Physician Initiated Reanalysis

As the clinical understanding of genomics continues to evolve, physician-initiated reanalysis enables a reassessment of the patient’s genetic data and clinical presentation in light of new clinical findings and/or new research and insights. This process offers patients a renewed opportunity to uncover meaningful answers.

Phlebotomy Services

If a patient is not able to get access to a blood draw service, we may have options to help find a convenient phlebotomy service and prevent further delays in testing. (Restrictions apply)

Multiple Testing Formats

Comparator testing is available (Duo, Trio, and Quad), which involves testing the patient along with biological family members as a comparator—such as parents or siblings—as comparators to more accurately identify the genetic cause of a rare disease. Rapid testing is also available with clinical reports provides in 5 days.

EMR Integration with Epic Aura

Organizations using Epic Aura will have the ability to order WES from Baylor Genetics and view results directly in the EHR—supporting fast, informed treatment decisions and improving the provider experience.

Testing Options

Rapid Whole Genome Sequencing (rWGS)

Comprehensive genetic testing for critically-ill patients in the NICU/PICU/CVICU with a suspected genetic disease.

Results in 5 Days†

Get Started with rWGS

† Turnaround time is about 5 days, but can vary based on factors such as collection date, sample quality/quantity and completeness of patient information provided.

rWGS Indications

  • Cardiac Arrest
  • Congenital Anomalies (such as cardiac, skeletal, and genitourinary anomalies)
  • Developmental Delays
  • Epilepsy
  • Extensive Differential Diagnosis
  • Failure to Thrive
  • Hypotonia
  • Intellectual Disability
  • Immunodeficiencies
  • Metabolic Disturbances
  • Neurodevelopmental Disorders
  • Neuromuscular Disorders
  • Previous Genetic Testing Uninformative
  • Prolonged and/or Recurrent Hospital Stays
  • Respiratory Insufficiency at Term

Test Options

Flexible Sample Types

  • Blood
  • Buccal Swab
  • Cord Blood
  • Cultured Skin Fibroblast
  • Extracted DNA
  • Saliva

Whole Genome Sequencing (WGS)

Comprehensive genetic testing for patients suspected to have a genetic condition with a complex phenotype.

Results in 3 weeks†

Get Started with WGS

† Turnaround time is about 3 weeks, but can vary based on factors such as collection date, sample quality/quantity and completeness of patient information provided.

WGS Indications

  • Autism Spectrum Disorder
  • Cerebral Palsy
  • Congenital Anomalies (such as cardiac, skeletal, and genitourinary anomalies)
  • Developmental Delays
  • Epilepsy
  • Extensive Differential Diagnosis
  • Failure to Thrive
  • Hypotonia
  • Intellectual Disability
  • Immunodeficiencies
  • Metabolic Disturbances
  • Neurodevelopmental Disorders
  • Neuromuscular Disorders
  • Previous Genetic Testing Uninformative
  • Prolonged and/or Recurrent Hospital Stays
  • Vision and Hearing Loss

Test Options

Flexible Sample Types

  • Blood
  • Buccal Swab
  • Cord Blood
  • Cultured Skin Fibroblast
  • Extracted DNA
  • Saliva

Comparator Testing (Duo, Trio, Quad) involves analyzing the genetic information of the patient alongside one or more biological family members (comparators) to better interpret genetic variants. By comparing the patient’s DNA with close relatives, we can determine which variants are inherited and which may be new (de novo). This reduces variants of uncertain significance and increases both diagnostic confidence and yield.

  • Duo Testing: Patient (Proband) + One Biological Parent
  • Trio Testing: Patient (Proband) + Both Biological Parents
  • Quad Testing: Patient (Proband) + Both Biological Parents + Closely Related Family Member

More Information

  • PCR-free based library preparation provides uniform genome sequencing coverage, for better accuracy in variant calling
  • Analysis of coding and non-coding regions
  • 58 Detectable STRs: ABCD3, AFF2, AFF3, AR, ARX, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS/ATXN8, BEAN1, C9orf72, CACNA1A, CBL, CNBP, COMP, CSTB, DAB1, DIP2B, DMPK, EIF4A3, FGF14, FMR1, FOXL2, FXN, GIPC1, GLS, HOXA13, HOXD13, HTT, JPH3, LRP12, MARCHF6, NOP56, NOTCH2NLC, NUTM2B-AS1, PABPN1, PHOX2B, PPP2R2B, PRDM12, PRNP, RFC1, RILPL1, RUNX2, SAMD12, SOX3, STARD7, TBP, TCF4, THAP11, VWA1, XYLT1, YEATS2, ZFHX3, ZIC2, ZIC3
  • 40x sequencing coverage provides a higher level of accuracy and reliability for identifying genetic variants
  • Change to: Genomic Findings (CNV, mtDNA, ROH, SV, SNV, STR, UPD, methylation of FMR1)

Secondary and Incidental Findings
Medically actionable variants that might not be associated with a patient’s current disease still might provide important information for their medical management in the future. Baylor Genetics provides the option for the reporting of pathogenic and likely pathogenic variants in genes on the ACMG Secondary Findings list. In addition, other incidental findings unrelated to the patient’s phenotype but that might impact their medical management can be separately opted into. (Must Opt-in)

CAP Accredited and CLIA Certified
The tests described have been developed and their performance characteristics determined by the CLIA-certified and CAP-accredited laboratory performing the test. These tests are laboratory-developed tests (LDTs) and have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Clinical testing is performed in compliance with the Clinical Laboratory Improvement Amendments (CLIA) and the standards of the College of American Pathologists (CAP), ensuring high quality and reliability in laboratory practices.

It is important to understand that genetic tests, even if negative, cannot rule out every variant. Genetic testing, while highly accurate, might not detect a variant present in the gene(s) tested. This can be due to limitations of the information available about the gene(s) being tested, or limitations of the testing technology. It is not possible to exclude risks for all genetic diseases for patients or their family members. It is possible that even if the test identifies the underlying genetic cause for a disease, this information may not help in predicting the progression of disease or change management or treatment of disease.

  1. RNA-Seq is only performed on qualified variants that meet the prediction algorithm criteria that suggests additional functional evidence can be provided. If a qualified variant is found by WGS, RNA-Seq can only be performed on blood samples. Additional specimens may be requested as needed.
  2. For select cases when appropriate as determined by Baylor Genetics, WGS may be supplemented with Optical Genome Mapping (OGM) to aid with result clarification for complex structural variant analysis. Complex structural variant analysis using OGM can only be performed on blood samples. Additional specimens may be requested as needed.
  3. A final report will be issued prior to initiating RNA‑Seq or complex SV analysis (with OGM), with any resulting updates provided through an addended report. Comparator samples are excluded from RNA-Seq, complex SV (with OGM), and STR analyses.
  4. Complex SV analysis (with OGM) as well as STR and methylation analyses using long-read sequencing (LR) are not approved in New York State.
  5. Requires comparator samples from both biological parents.
  6. Global MAPS is a semi-quantitative metabolomic profiling screen that analyzes disruptions in both individual analytes and pathways related to biochemical abnormalities. Must be ordered separately from WGS testing.
  7. RNA-Seq analysis, complex SV analysis (with OGM), methylation analysis and some STR analyses are not available as stand-alone tests.
  8. Based on internal data.

Understanding
Whole Genome Sequencing

The Most Comprehensive First-Tier Test for Diagnosing Rare Disease and Unexplained Symptoms

Learn More About WGS