Genomic Unity Exome Analysis (includes STR analysis of 26 loci)

Performance Characteristics

• Interpretation performed in-house
• Report generated in-house
• Specimen preparation performed at an outside lab
• Wet lab work performed at an outside lab
• Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation, diagnosis and report generation is performed in-house.

Whole genome sequencing (WGS) methodology provides comprehensive access to an individual’s genome including coverage of coding as well as non-coding regions. Whole genome sequencing identifies small sequence changes including single nucleotide variants (SNVs) and small insertions and deletions (Indels) as well as large structural variants including large duplications and deletions and tandem repeat expansions in select pathogenic loci. Analytic validity of the WGS assay for SNVs and Indels was performed using reference samples from the Genome In a Bottle Consortium. In analytic validation, the WGS assay achieved 99.921% sensitivity, >99.999% specificity and 99.768% positive predictive value for detecting SNVs. The assay achieved 98.809%, 98.637% and 97.562% sensitivity for detecting Indels of 1-5, 6-15 and 16-50 nucleotides respectively. The assay achieved 96% sensitivity for detecting structural variants in known clinical samples.

The false negative rate has not been determined for AFF2, AFF3, ATXN10, CNBP, CSTB, DIP2B, JPH3, NOP56, NOTCH2NLC, PHOX2B, TBP or TCF4 tandem repeat expansions.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.

Yes

Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.

Intra-Laboratory

Not provided