This test provides reanalysis and interpretation of secondary findings in a sample previously sequenced at Revvity Omics
Test Code | D0055 |
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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 |
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
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).
Collection |
This test is performed on data that has already been generated by Revvity Omics. |
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Sample Condition |
N/A |
Shipping |
N/A |
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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