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Reanalysis of Secondary Findings of Previous RVTY Test

Omics test Model
Test Code D0055
Test Summary

This test provides reanalysis and interpretation of secondary findings in a sample previously sequenced at Revvity Omics

Turn Around Time 4 - 6 weeks
Acceptable Sample Types Reanalysis Only
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved No
Self (patient) Price $350.00
Institutional Price $350.00
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Test Description

This test involves reanalysis and interpretation of secondary findings from previously generated data from a Revvity Omics whole exome or whole genome sequencing test. All variants identified will be analyzed according to American College of Medical Genetics and Genomics (ACMG) guidelines. Note that only pathogenic or likely pathogenic variants will be reported for secondary findings

Test Methods and Limitations

Alignment to the human reference genome (hg19) is performed and annotated variants are identified in the targeted region. Variants are called at a minimum coverage of 8X and an alternate allele frequency of 20% or higher. Single nucleotide variants (SNVs) meeting internal quality assessment guidelines are confirmed by Sanger sequence analysis for records after results are reported. Indels and SNVs may be confirmed by Sanger sequence analysis before reporting at director discretion. This assay cannot detect variants in areas containing large numbers of tandem repeats. Copy number variation (CNV) analysis detects deletions and duplications; in some instances, due to the size of the exons, sequence complexity, or other factors, not all CNVs may be analyzed or may be difficult to detect. Only CNVs related to phenotype are reported. This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director. Primary data analysis is performed using Illumina DRAGEN Bio-IT Platform v.2.03. Secondary and tertiary data analysis is performed using Revvity Omics' internal ODIN v.1.01 software for SNVs and Biodiscovery's NxClinical v.4.3 or Illumina DRAGEN Bio-IT Platform v.2.03 for CNV and absence of heterozygosity (AOH).

Detailed Sample Requirements

Reanalysis Only
Test Details Page
Collection This test is performed on data that has already been generated by Revvity Omics.
Sample Condition N/A
Shipping N/A