Clinical Whole Genome Sequencing with Interpretation
Navigate diagnostic uncertainty with comprehensive genome analysis and expert interpretation—delivering actionable insights that transform patient outcomes.
Achieve Diagnostic Clarity with Whole Genome Analysis
Broad Clinical Labs’ Clinical Whole Genome Sequencing (WGS) with Interpretation service analyzes the entire genome in a single test to identify disease-causing variants across coding and non-coding regions—providing comprehensive answers when standard genetic testing proves inconclusive. Our team of board-certified clinical laboratory geneticists provides expert interpretation—filtering and prioritizing variant data based on patient phenotype and inheritance patterns. The result: clear, actionable reports that enable confident treatment decisions.
With our 28-day turnaround time, rapidly transform genomic complexity into diagnostic clarity.
Complex Genetic Cases Decoded
Make confident clinical decisions with comprehensive variant interpretation from our board-certified genomic experts.
Your Actionable Genetic Screening Panel Includes:
- In-depth variant evaluation of SNVs, InDels, and CNVs with detailed gene-disease summaries and variant-level evidence supporting pathogenicity determinations.
- Tailored clinical recommendations and clear guidance of next steps to support informed clinical decision-making.
- Guideline-based classification using ACMG/AMP guidelines with HGVS nomenclature, phenotype matching using Human Phenotype Ontology terms, and gene-disease validity assessments.
- Advanced technology utilizing Illumina® NovaSeq X Plus sequencing analyzed via DRAGEN pipeline and variant prioritization, curation, and report generation by our team of clinical genomic analysts, board-certified genetic counselors, and board-certified laboratory geneticists in commercial tertiary analysis software.
- Optional secondary findings with variants of uncertain significance in phenotype-related genes available as separate reports for proband alone or with parents (duos/trios).
Clinical Indications & Utility
Clinical whole genome sequencing provides the comprehensive analysis needed to achieve diagnostic clarity in complex genetic cases.
Developmental & Congenital Presentations
- Multiple congenital anomalies (MCA)
- Developmental delay (DD)
- Intellectual disability (ID)
- Epilepsy or seizure disorders
Challenging Diagnostic Cases
- Prior testing inconclusive
- Genetically heterogeneous conditions
- Extensive differential diagnosis
- Complex phenotypes
Family History Indicators
- Suspected hereditary conditions
- Multiple affected family members
- De novo variant suspected
Whole Genome Analysis with Broad Clinical Labs
| Service Type | Data Deliverables | What’s Included |
|---|---|---|
|
Clinical WGS with Interpretation |
Interpretation report PDF and/or JSON delivered securely online or via API with sequencing data (CRAM) available upon request |
|
Your Path to Diagnostic Answers
Ordering Support
- Onboarding consultation with our specialists
- Receive sample collection kit
Sample Collection
Collect whole blood, buccal swab, saliva, buffy coat, DNA
Genomic DNA must be extracted at a CLIA-certified lab
Sample Shipment
Ship samples using provided materials
Samples received and quality verified
Sequencing
& Analysis
WGS performed in our CLIA/CAP facility
Advanced bioinformatic analysis
Interpretation by board-certified geneticists
Report Delivery
≤28 days
Comprehensive clinical report
Secure electronic delivery via cloud-based portal
Ordering Support
- Onboarding consultation with our specialists
- Receive sample collection kit
Sample Collection
Collect whole blood, buccal swab, saliva, buffy coat, DNA
Genomic DNA must be extracted at a CLIA-certified lab
Sample Shipment
Ship samples using provided materials
Samples received and quality verified
Sequencing & Analysis
WGS performed in our CLIA/CAP facility
Advanced bioinformatic analysis
Interpretation by board-certified geneticists
Report Delivery ≤28 days
Comprehensive clinical report
Secure electronic delivery via cloud-based portal
Partnerships Advancing Patient Care
Our commitment to patient care extends beyond the lab—we partner with leading healthcare institutions to expand access to life-saving genomic medicine and advance clinical innovation.
Advancing Pediatric Cancer Diagnostics
Boston Children’s Hospital and Dana-Farber Cancer Institute partnered with us to develop BrightSeq, a groundbreaking initiative transforming how rare pediatric cancers are detected and monitored. Leveraging Broad Clinical Lab’s precision genomics, liquid biopsy technologies, and scalable clinical operations, this innovative collaboration provides critical diagnostic insights while advancing pediatric cancer research globally.
Expanding Access to Cardiac Genetics
Everygene’s nationwide cardiomyopathy testing program leverages our clinical sequencing services to deliver free genetic testing to patients across the United States, addressing the critical gap where fewer than 2% of cardiomyopathy patients currently receive genetic evaluation. Through collaboration with the Laboratory for Molecular Medicine at Mass General Brigham for expert variant interpretation, this initiative demonstrates how advanced genomic technology can eliminate financial and logistical barriers to life-saving cardiac genetic testing for over one million Americans living with this condition.
Pioneering Preventive Cardiovascular Care
Mass General Brigham Personalized Medicine collaborated with us to launch genetic testing for inherited cardiovascular risk across eight conditions. Leveraging our clinical sequencing and validated in over 53,000 Mass General Brigham Biobank participants, the test integrates advanced polygenic risk scoring with clinical-grade interpretation, enabling proactive disease prevention through personalized genomic insights.
Comprehensive Genetic Risk Assessment
In collaboration with Fabric Genomics and Galatea Bio, we’re transforming genetic testing by integrating rare variant analysis with polygenic risk scoring for common diseases. Using our clinical sequencing as the foundation, this collaboration combines Fabric Genomics’ clinical reporting platform with Galatea Bio’s cutting-edge ancestry algorithms to assess risk for common diseases across diverse populations, delivering more complete, equitable genetic risk profiles.