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Baylor Genetics
Whole Exome 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

Our approach allows Whole Exome Sequencing to be evaluated alongside an optional range of modalities that can extend beyond next-generation sequencing. This strategy offers a broader molecular perspective and deeper insight into disease mechanisms, helping to inform and support an accurate diagnosis.

Our multimodal approach begins by detecting variants across 20,000 genes with Whole Exome Sequencing—focusing on coding regions where 85%1 of disease-causing variants are found—which may help explain a patient’s symptoms. By analyzing multiple variant types, this comprehensive view reveals insights that can guide a potential diagnosis and establishes a foundation for deeper exploration through additional layers of data.

1. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12(11):745-755. doi:10.1038/nrg3031

RNA Transcript Analysis* adds a second layer of insight by providing functional evidence to help interpret genetic variants identified through Whole Exome Sequencing (WES). Our companion test, RNAseq, takes a targeted approach to tailor RNA transcript analysis of qualified variants* specific to the patient. This contributes to a reduction in the number of variants of uncertain significance (VUS) and an increase in diagnostic yield.

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*RNA Transcript Analysis is conducted with RNAseq– it is not currently available as a standalone test. A qualified variant means that it meets our prediction algorithm criteria that RNAseq will provide additional functional information. Must opt-in.

Mitochondrial disorders often involve neurological symptoms and multi-systemic manifestations. In some cases, patients may carry a mixture of normal and mutated mitochondrial DNA—a condition known as heteroplasmy—which can make detection and diagnosis more challenging. Our high-depth Mitochondrial* DNA sequencing provides enhanced sensitivity, capable of detecting heteroplasmic variants present at levels as low as 2%. This increased resolution improves the clinical utility of testing and enhances diagnostic confidence.

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* Available as a separate test.

Copy Number Variants are segments of DNA that are either deleted or duplicated, leading to an abnormal number of copies of one or more genes and are a major cause of rare genetic disorders. While WES readily captures most small sequencing variants, its ability to capture CNVs is more limited. When performed in conjunction with WES, CNV analysis with Chromosomal Microarray* (CMA) can detect CNVs that might provide a clearer understanding about a patient’s phenotype.

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*Available as a separate test.

Whole Exome Sequencing (WES) can identify the genetic basis of many Inborn Errors of Metabolism (IEM) but doesn’t necessarily show the impact on metabolic activity. Global MAPS®* (Metabolomic Assisted Pathway Screen), analyzes hundreds of metabolites to identify changes or irregularities in biochemical pathways not currently detected by routine clinical or genetic testing.

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*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 WES.

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 Exome Sequencing (rWES)

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

Results in 5 Days†

Get Started with rWES

† 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.

rWES 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 Exome Sequencing (WES)

Comprehensive genetic testing ideal for undiagnosed patients that don’t fit a well-defined syndrome.

Results in 3 weeks†

Get Started with WES

† 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.

WES 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

  • Analysis of coding regions only (exomic information). Intronic information not included.
  • Exomic Findings (CNV, SNV)
  • Detects CNVs 3+ exon resolution and in some instances smaller than 3 exons depending on the region
  • 100x sequencing coverage provides a higher level of accuracy and reliability for identifying genetic variants

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.

Understanding
Whole Exome Sequencing

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

Learn More About WES