Proactive Whole Exome Sequencing
Early insights. Informed choices. Personalized care for every pregnancy.
Proactive prenatal whole exome sequencing (WES) provides an early insight into your baby’s genetic health before birth. By analyzing the protein-coding regions of DNA, WES allows for the early detection of rare and inherited conditions that can develop in childhood. This information helps families and healthcare providers make informed decisions and develop personalized prenatal and postnatal care strategies based on the baby's unique genetic profile.
Proactive testing would include sequencing of the nuclear genes of a presumed healthy fetus. Pediatric-onset diagnostic findings will be reported in the selected categories of findings –
- ACMG Recommended Secondary Findings - pathogenic and likely pathogenic variants in genes recommended for reporting based on well-defined, highly penetrant phenotypes with clinical actionability.
- Diagnostic findings in all disease-associated genes - pathogenic and likely pathogenic variants are reported in genes associated with disease.
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.
Resources
Testing options
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.