Prenatal genetic testing
Explore diagnostic genetic testing during an ongoing pregnancy.
PreventionGenetics offers a full menu of prenatal genetic tests for a broad range of prenatal conditions. Prenatal genetic testing can help health care providers and families plan a birth strategy, surgeries, and other interventions. Our tests offer the potential for a molecular diagnosis rather than the risk modification provided by a screening test.
Even though we do not offer prenatal screening, we can use prior screening results to help choose the best genetic test to achieve a molecular diagnosis for your patient. Our team of genetic counselors can answer your questions about testing strategy, specimen requirements, and reporting.
Familial Variant Testing
Includes:
- Targeted fetal analysis of up to 3 variants
- Proband report. Parental report for sequence variants provided upon request.
Turnaround time: 6 - 14 days
CNV Analysis via Chromosomal Microarray (CMA)
Test code 3780
CMA - Rapid Prenatal is available for ongoing pregnancies. See the test description for additional test details and limitations.
Includes:
- Full CMA analysis of proband
- Setup and maintenance of fetal cell cultures
Turnaround time: 6 - 10 days
PGxome® - Prenatal Test
We will perform whole exome sequencing (WES) for ongoing pregnancies when there is an indication of a fetal anomaly. PGxome tests for ongoing pregnancies require cultured cells.
Includes:
- Full exome sequencing of the proband and comparator(s), if ordered.
- Two secondary findings opt-in categories
Turnaround time: 7 - 16 days
Next-Generation Sequencing Panel Tests
We will perform next-generation sequencing (NGS) tests for ongoing pregnancies when there is an indication of a fetal anomaly. See our test-specific descriptions for additional test details and limitations.
Includes:
- Full next-generation sequencing of fetus and comparator(s), if applicable
Turnaround time: 10 - 18 days
Full Gene Sanger Sequencing
We will perform full gene Sanger sequencing tests for ongoing pregnancies when there is an indication of fetal anomaly. See our test-specific descriptions for additional test details and limitations.
Includes:
- Full gene Sanger analysis of the fetal sample
Turnaround time: Varies by gene. Please contact the lab for an estimate.
CNV Analysis via Gene-Centric aCGH Test
We will perform gene-centric aCGH for prenatal specimens when there is an indication of a fetal anomaly. At this time MLPA is not validated for prenatal specimen types. Please contact our Genetic Counseling Team to discuss any familial CNV situations. Test requirements for familial CNVs are detailed in the familial variant section above. See our full test description for additional test details and limitations.
Includes:
- Fetal testing only
Turnaround time: 11 - 20 days