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  • ホーム
  • Services
  • Revvity Omics Services
  • Revvity Omics Clinical Services
  • Rare Disease Testing
  • Whole Genome Sequencing
  • Reanalysis and Interpretation of Previous RVTY Whole Genome TRIO Sequencing Test

Reanalysis and Interpretation of Previous RVTY Whole Genome TRIO Sequencing Test

Reanalysis and Interpretation of Previous RVTY Whole Genome TRIO Sequencing Test
Test code: D0523
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Test code: D0523
Order Tests

Reanalysis and Interpretation of Previous RVTY Whole Genome TRIO Sequencing Test

This test provides reanalysis and interpretation of sequencing data from a previous whole genome trio test sequenced at Revvity Omics.

View test information
Test Code D0523
Test Summary

This test provides reanalysis and interpretation of sequencing data from a previous whole genome trio test sequenced at Revvity Omics.

Turn Around Time 2 - 4 weeks
Acceptable Sample Types Reanalysis Only
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
CPT Codes** 81479(x2), 81427(x3), 81460(x1)
Self (patient) Price $550.00
Institutional Price $550.00
*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 code: D0523
Download PDF Version
Resources
Clinical Genomics Test Requisition Form
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test information

  • Test description
  • Test methods and limitations
  • Detailed sample requirements
  • Resources

Test description

This test involves reanalysis and interpretation of previously generated data from a Revvity Omics whole genome sequencing test. All variants identified will be analyzed according to American College of Medical Genetics and Genomics (ACMG) guidelines. In addition to SNVs, our WGS analysis will reliably detect CNVs of 3 exons or greater as well as large-scale CNVs such as microdeletions and other gene/chromosomal-level events. CNVs of 1-2 exons may be detected and reported with the recommendation for follow-up testing. Mitochondrial DNA analysis is included. It is recommended that updated clinical notes and phenotypes are provided to aid in the reanalysis.

Test methods and limitations

FASTQ files from a whole genome sequencing test previously completed at Revvity Omics are utilized for reanalysis. A base is considered to have sufficient coverage at 20X and an exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered at 20X or more. A list of low-coverage regions, if any, is available upon request. Revvity Omics has curated deep intronic pathogenic variants in public databases and these are tagged for identification during analysis. Alignment to the human reference genome (GRCh37) is performed and annotated variants are identified in the targeted region. Variants reviewed have a minimum coverage of 8X and an alternate allele frequency of 20% or higher. Indels and single nucleotide variants (SNVs) may be confirmed by Sanger sequence analysis before reporting at the director's discretion. Mitochondrial DNA is sequenced and analyzed using the same pipeline. Genes and/or exons located in pseudogene regions are not covered in this assay. 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. This assay does not interrogate CNVs in mitochondrial DNA. CNV analysis will not detect tandem repeats, balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, and balanced insertions), methylation abnormalities, triploidy, and genomic imbalances in segmentally duplicated regions. 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 bcl2fastq converter v2.19. Secondary analysis and tandem repeats analysis are performed using Illumina DRAGEN Bio-IT Platform v.3.10.8. Tertiary data analysis is performed using SnpEff v5.0 and Revvity Omics' internal ODIN v.1.01 software. CNV and absence of heterozygosity are assessed using BioDiscovery’s NxClinical v6.1 software. SMA testing and repeat expansion disorder screening are performed using in-house bioinformatics tools based on published literature with modification (PMID: 28125085, 32092542, 28887402).

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

Resources

Clinical Genomics Test Requisition Form

How To Order

Step 1
Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2
Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
 

Step 3
Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

Learn More

1. Build Your Custom Panel

Complete the Genomics Gene Tool Form, and a unique test code will be generated for you.

 

2. Complete and print the test requisition

Complete & print the test requisition.

Ensure that:

  • You entered your unique test code from the Genomics Gene Tool
  • All sections are complete
  • Your patient has signed an informed consent
     

3. Collect and Send Patient Sample

Collect patient sample.

  1. Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient's name and date of birth.
  2. Note: if you do not have a Revvity Omics kit available in your office, please email or call us at 1-866-354-2910.

Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:

✔   Patient sample

✔   Completed informed consent

✔   Test requisition form

✔   Any applicable medical records or clinical notes
 

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