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GTR Home > Tests > 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.

Analytical Validity


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.


Not provided

Assay Limitation(s)


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.

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Method used for proficiency testingHelp

FDA Regulatory Clearances of the Test


Not provided

Clinical resources

Practice guidelines

  • AAP, 2013
    Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.