Prenatal exome sequencing-XL (PES-XL) 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-XL 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. performing a trio, a separate family studies form and consent is required.
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.
For this test, a preliminary report is available in 3 weeks from when DNA is extracted in the lab. A final report is issued within 2 weeks after the preliminary report. Cell culture, if needed, may extend turnaround time by 1-4 weeks.
Duo Analysis: 81415, 81416; Trio Analysis: 81415, 81416x2
Please contact the lab.