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Analysis and Interpretation of Whole Genome Sequencing External Data
Analysis and Interpretation of Whole Genome Sequencing External Data
Test code:
D0052
Analysis and Interpretation of Whole Genome Sequencing External Data
This test provides reanalysis and interpretation of whole genome data previously sequenced at an outside laboratory.
| Test Code | D0052 |
|---|---|
| Test Summary |
This test provides reanalysis and interpretation of whole genome data previously sequenced at an outside laboratory. |
| Turn Around Time | 2 - 4 weeks |
| Acceptable Sample Types | Reanalysis Only |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | No |
| 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.
**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:
D0052
Resources
Test information
Test description
This test involves reanalysis and interpretation of previously generated data from an outside laboratory 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 attempt to 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.Due to differences in laboratory sequencing protocols and procedures, it is possible that additional limitations will be detected. It is recommended that updated clinical notes and phenotypes are provided to aid in the reanalysis.
Test methods and limitations
Whole genome sequencing is performed by an external laboratory and the FASTQ files are provided directly to Revvity Omics. Coverage requirements are based on validation data. An exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered. Revvity Omics has curated deep intronic pathogenic variants from public databases; these are tagged for identification during analysis.
Alignment to the human reference genome is performed, and annotated variants are identified. Variants are reviewed based on minimum coverage and alternate allele frequency cut offs defined as per laboratory procedure. Indel and single-nucleotide variants (SNVs) may be confirmed by Sanger sequencing analysis before reporting, based on laboratory requirements. This assay is not designed to detect mosaicism; however, possible cases of mosaicism may be detected and reported if laboratory requirements are met.
Primary data analysis is performed using standard FASTQ conversion tools appropriate to the sequencing platform. Secondary analysis is conducted using a high-performance genomic analysis pipeline. Tertiary analysis incorporates established annotation tools together with Revvity Omics' internal software.
Detailed sample requirements
Reanalysis Only
| Collection |
This test is performed on data that has already been generated by Revvity Omics. |
|---|---|
| Sample Condition |
N/A |
| Shipping |
N/A |
Resources
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.
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