Cutting-Edge Genetic Testing with Speed and Precision
Breakthrough Genomics operates a CAP-accredited and CLIA-certified advanced genomics lab in Southern California that offers specialized wet-lab services and cutting-edge clinical tests for rare disease diagnosis, inherited risk assessment, and early cancer detection.
Whole Genome
Select WGS Tests with bio-informatic analysis powered by Virtual Geneticist
Gene Panel Tests
Choose from an extensive catalog of specialty gene panel tests
Benefits to a Successful Diagnosis
Improved disease
management and
outcomes
Options for therapeutic treatments
Opportunities to participate in clinical trials
Understanding of potential risks to family members
Potential to avoid a long and expensive diagnostic odyssey
Whole Genome Sequencing Tests (WGS)
Advanced Whole Genome Sequencing Tests include comprehensive genetic analysis that can uncover:
- Newly discovered pathogenic and likely pathogenic genetic variants
- Genetic variants in challenging genomics regions
- Genetic diagnoses missed by prior tests or in areas not covered by standard gene panels
Service Options Include:
Expedited and Rush Sample Processing and Analysis Clinical Reports with Review and Sign-Out by U.S. Board-certified Medical Geneticist Optional Research Use Only Reports Customized
Bio-informatic Analysis and Output Use Cases
Rare Disease Diagnosis
Rapid WGS for the NICU/PICU
Comprehensive
Carrier Screening
Specialty Gene Panel Tests with WGS Reflex Options
Inherited Cancer and Cardiovascular Risk Assessment
Additional Services
- RNA Transcriptome Analysis
- De-novo variant discovery
- Parent of Origin Studies
- Large Cohort Testing
- Reflex Testing
- Cascade and Family Testing
Schedule your Free Consultation to learn more about our clinical tests and services
Collection Options and Sample Types
Trusted by Leading Healthcare Organizations:
Blood
Saliva
Extracted DNA
FFPE Tissue Samples
Test Brochures and Video
Specialty Gene Panel Tests
Breakthrough Genomics offers a comprehensive portfolio of specialty gene panel tests designed to deliver highly targeted, clinically actionable insights for patients with suspected genetic disorders.
These gene panel tests leverage advanced Next-Generation Sequencing (NGS) technology and expert genomic interpretation to evaluate genes associated with specific disease categories, including rare diseases, neurological and metabolic disorders, inherited cardiovascular disease, oncology
risk assessements, and more.
Each specialty panel is supported by our proprietary interpretation platform and clinical expertise, enabling rapid identification of pathogenic variants and clear evidence-based reporting.
Breakthrough Genomics maintains a Clinical and Public Health Laboratory License from the California Department of Public Health.