Prenatal exome sequencing (PES) is available for patients with abnormal findings on ultrasound. This is a phenotype-driven analysis where only pathogenic and likely pathogenic variants related to the reported clinical features will be included in the prenatal report.
PES can be requested as a duo (maternal and fetal sample) or as a trio (maternal, paternal, and fetal sample). Maternal Cell Contamination (MCC) is required for this test.
Reanalysis may be requested at no additional charge after the baby is born. Any new medical information should be reported to the lab upon request for reanalysis. A new consent form will be required for reanalysis. Any changes suspected of causing the concerns identified during pregnancy will require a postnatal sample for confirmation.
A preliminary report will be available at 3 weeks from sample receipt, if requested. The final report will be available within 3-5 weeks. Cell culture, if needed, takes 1-4 weeks and may lengthen turnaround time.
Duo Analysis : 81415, 81416 Trio Analysis : 81415, 81416x2
Please contact the lab.