Description
The National Human Genome Research Institute (NHGRI) is seeking a contractor to provide clinical laboratory testing and specialized biochemical analysis services for the Undiagnosed Diseases Program (UDP). The contractor will be responsible for performing CLIA-certified laboratory testing, providing interpretive services, and offering consultation and technical expertise to support the diagnostic and research objectives of the NHGRI UDP. The scope of work includes testing for rare genetic, metabolic, mitochondrial, and other complex disorders using advanced biochemical, molecular, and metabolomic testing methodologies.
Some key services that the contractor will be expected to provide include:
• Mitochondrial disease evaluations
• Quantitative PCR analysis for mitochondrial DNA copy number
• Assessment of mitochondrial DNA deletions
• Metabolomic analyses
• Biochemical pathway assessments
• Inborn errors of metabolism testing
• Muscle, liver, fibroblast, blood, urine, and other tissue-based analyses
• Follow-up family studies, when authorized by the Government
Attached files
Contact
John Burton