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.

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.

The false negative rate has not been determined for AFF2, 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