Participant Services
Our comprehensive suite of services is offered to all patients enrolled in the program.
Enrollment and Intake Services
- Protocol discussion and consent
- Standardized phenotyping
- Test ordering via their medical record
- Sample collection and DNA isolation
Genome Sequencing Services
- Genome sequencing with >90% coverage at 20x
- Bioinformatic processing
- Clinical interpretation and reports
- Orthogonal confirmation, typically Sanger sequencing
- Clinical-compliant reporting in CRIS
Genetic Counseling and Data Sharing Services
- Return of results with genetic counseling
- Clinical consultation
- Research data consultation
- Access to secure, searchable online data portal for genotypes and phenotypes
- Data deposition to meet requirements of NIH genomic data sharing policy
Additional Genomic Services at NIAID
- NIAID Clinical Genomics Program: The NIAID Clinical Genomics Program is a collaborative program that builds upon large-scale gene sequencing analysis to promote multi-disciplinary, cutting-edge basic and clinical genomics research.
- Genomic Centers for Infectious Diseases (GCID): GCID provide insights into microbes, pathogenesis, and host interaction by supporting a diverse set of genomic capabilities, such as high-throughput sequencing and related technologies.
- Clinical Genomics at BCBB: The Bioinformatics and Computational Biosciences Branch's (BCBB) Clinical Genomics team focuses on analysis of patient-related data, including exome/genome analysis and RNA-seq, to aid in clinical research projects for diagnosis of known diseases and discovery of novel genetic disorders.