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Add Familial Report to Previous Whole Genome Sequencing TRIO Test
Add Familial Report to Previous Whole Genome Sequencing TRIO Test
Test code:
D0599
Add Familial Report to Previous Whole Genome Sequencing TRIO Test
Additional healthy analysis and interpretation of a family member's whole genome sequencing data
| Test Code | D0599 |
|---|---|
| Test Summary |
Additional healthy analysis and interpretation of a family member's whole genome sequencing data |
| Turn Around Time | 6 - 8 weeks |
| Acceptable Sample Types | Reanalysis Only |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | Yes |
| Self (patient) Price | $660.00 |
|---|---|
| Institutional Price | $660.00 |
*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:
D0599
Test information
Test description
This adds a parental report with secondary findings to a whole genome sequencing trio test. Please note, appropriate selection must be made on the test requisition form as well as the consent in order to generate parental reports. Additionally, only pathogenic or likely pathogenic variants will be reported.
Test methods and limitations
Whole genome sequencing is performed on genomic DNA by short-read next-generation sequencing (NGS). 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. Mitochondrial DNA is sequenced and analyzed using the same pipeline. Genes and/or exons with nonunique sequences, such as those containing pseudogene regions, are not analyzed in this assay.
Copy number variation (CNV) analysis detects deletions and duplications; however, in some instances, due to exon size, sequence complexity, or other factors, certain CNVs may be difficult to detect and analyze. 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, or genomic imbalances in segmentally duplicated regions. 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. Copy number variation and absence of heterozygosity assessments are performed using a clinical cytogenomics platform. 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
| Collection |
This test is performed on data that has already been generated by Revvity Omics. |
|---|---|
| Sample Condition |
N/A |
| Shipping |
N/A |
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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