Whole Genome Sequencing

What if Your Clinical Genome Test Could Do More?

More Informed Results with Multimodal Data Analysis

Baylor Genetics’ Multimodal Data Analysis brings together different genomic modalities for even more answers to guide patient care and outcomes.

Genome Analysis

Enables the detection of clinically relevant genetic variants across the genome

Complex Structural Variant (SV) Analysis

Clarify large or complex genomic rearrangements related to a wide spectrum of rare genetic diseases

Short Tandem Repeat (STR) Analysis

Detect expansions in 58 STRs to identify neurological, neuromuscular, and other disorders

Methylation Analysis of FMR1

Detect FMR1  gene methylation status in Fragile X-associated conditions

RNA Sequencing
(RNA-Seq) Analysis

Supplemental targeted RNA analysis to support clearer result interpretation patient-specific variants

Mitochondrial DNA
(mtDNA) Analysis

Full mtDNA genome sequencing for disorders with neurological and multisystem involvement

Uniparental Disomy
(UPD) Analysis

Detection of disorders where both chromosome copies originate from one parent

Metabolomic Analysis

Identify and clarify findings associated with heritable metabolic conditions

Ordered as a separate test (Global MAPS®) and reported separately from WGS

Our updated Whole Genome Sequencing now offers improved detection for patients with:

  • Unresolved clinical features

  • Progressive neurologic symptoms

  • Fragile X-related clinical presentations

Dive deeper into how complementary technologies like Optical Genome Mapping and Long‑Read Sequencing expand the clinical impact of Whole Genome Sequencing to detect complex structural variants, methylation, and repeat‑based findings that traditional approaches may miss.

Find Out How Your Genome Test Can Do More

Connect With Us For Updates

Note: When appropriate, Baylor Genetics may supplement Whole Genome Sequencing (WGS) with RNA Sequencing (RNA-Seq) for variant classification and/or Optical Genome Mapping (OGM) for complex structural variant analysis. A final report will be issued prior to initiating RNA‑Seq or OGM, with any resulting updates provided through an addended report. Additional specimens may be requested as needed. Complex SV analysis (with OGM) as well as STR and methylation analysis using long-read sequencing are not approved in New York State. Comparator samples are excluded from RNA-Seq, complex SV (with OGM), and STR analyses.