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GTR Home > Tests > Genomic Unity Exome Analysis (includes STR analysis of 26 loci)

Performance Characteristics



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

Analytical Validity


The Genomic Unity® Exome Analysis is a whole genome sequence based test designed to identify genetic variants that correlate with the patient's clinical symptoms. This test includes sequence analysis (single nucleotide variants, deletions/insertions, characterized intronic and regulatory variants); and short tandem repeat expansion analysis in select genes. The sensitivity, specificity and positive predictive value of the assay is greater than 0.99 for single nucleotide variants and small insertions and deletions less than 50 base pairs. The clinical sensitivity of this test is over 0.99 for pathogenic short tandem repeats.


Not provided

Assay Limitation(s)


The false negative rate has not been determined for AFF2, 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.