Proactive Whole Genome Sequencing
Empowering early decisions with genomic insight
Whole genome sequencing (WGS) is revolutionizing prenatal and postnatal care. By analyzing an individual’s DNA before clinical symptoms emerge, WGS allows for early detection of genetic conditions, equipping families and healthcare providers with tools for proactive, personalized healthcare. This proactive approach enables informed, timely decisions that can significantly improve health outcomes.
Resources
Findings included in proactive genome sequencing
- ACMG Recommended Secondary Findings - pathogenic and likely pathogenic variants in genes recommended for reporting based on well-defined, highly-penetrant phenotypes with clinical actionability.
- Pharmacogenetic Variants - select allele haplotypes recommended by the Association for Molecular Pathology pharmacogenomics working group and classified as Clinical Pharmacogenetics Implementation Consortium (CPIC) level A and PharmGKB level 1A.
- Carrier Status - 330+ genes associated with disorders whose inheritance pattern is autosomal recessive or X-linked.
- Diagnostic findings in all disease-associated genes - pathogenic and likely pathogenic variants are reported in genes associated with disease.
Findings included in proactive prenatal genome sequencing
For proactive prenatal genome sequencing, only pathogenic and likely pathogenic findings in the ACMG recommended secondary findings and diagnostic results in disease-associated genes will be available for opt-in. Pediatric-onset diagnostic findings will be reported in the selected categories.
Maternal cell contamination (MCC) is offered as a stand-alone test. It is required for testing of samples derived from amniotic fluid and chorionic villi. MCC studies can be requested on other prenatal/fetal samples at the ordering provider's discretion.
Testing options
Proactive Testing
Proactive prenatal testing
How to order
Step 1
Test selection and place order
Step 2
Specimen collection and Shipment
Step 3
Sample shipment
How to order
Test selection and place order
Select the correct test for your patient, and fill out the appropriate Test requisition form.
- Please make sure that all sections are completed, and that the patient has signed an informed consent form.
- If a TRIO is ordered, please feel out the “Familial Information” section for tracking purposes.
Collect a sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.
- Ensure that all samples are labeled with the patient name and date of birth.
- For Trio tests, parental and/or family member samples can be submitted separately from the patient/proband, if needed. Additional samples must be received by the laboratory within three weeks of the original patient/proband submission.
- All parental/family member samples must be submitted with a fully completed requisition and informed consent form, complete with both physician and patient signatures.
Send a sample
Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.
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 content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.