Rare Disease Genetics Labs

Rare Disease Genetics Lab Build-Outs

Specialized Laboratory Infrastructure for Rare & Undiagnosed Conditions

Precision Lab Builds designs rare disease genetics laboratory build-outs for healthcare organizations focused on identifying and understanding genetic conditions that affect small or underserved patient populations. These laboratories support advanced genomic testing workflows used to investigate inherited, complex and previously undiagnosed disorders.

Rare disease genetics labs are typically built as high-complexity clinical genomics environments, integrating molecular genetics, next generation sequencing (NGS) and advanced data interpretation capabilities.

Core Rare Disease Genetics Capabilities Supported

Precision Lab Builds supports infrastructure for rare disease genetics workflows, including:

Whole Exome Sequencing (WES)

Comprehensive analysis of protein-coding regions for variant discovery

Whole Genome Sequencing (WGS)

Genome-wide sequencing for deep variant analysis

Targeted Rare Disease Panels

Focused sequencing aligned to specific phenotypes

Variant Interpretation & Data Integration

Secure environments for genomic analysis and reporting

Confirmatory Molecular Testing

Follow-up testing to support genomic findings

Rare Disease Lab Design Considerations

Rare disease genetics labs require advanced planning to support complex and evolving workflows, including:

1. Automation-ready sequencing and molecular processing areas

2. Flexible layouts to support new test development

3. Robust IT infrastructure for large genomic datasets

4. Secure data storage and analysis environments

5. Scalable space planning to accommodate expanding diagnostic capabilities

Our designs emphasize flexibility, accuracy and long-term adaptability.

Who This Is For

Rare disease genetics lab build-outs are commonly implemented by:

• Hospital and health system laboratories

• Academic and research medical centers

• Specialty and reference genetics laboratories

• Undiagnosed disease and precision medicine programs

Compliance & Operational Alignment

All rare disease genetics lab builds are designed to support:

• CLIA certification requirements

• CAP accreditation standards

• State laboratory regulations

• Validation, quality assurance and data governance workflows

Precision Lab Builds provides laboratory infrastructure and operational design support only and does not perform diagnostic testing or patient-facing services.