Prenatal Exome Sequencing – Trio Analysis
Key Information
Lab:
TAT:
21 days
Price:
Contact Lab
CPT Code(s):
81415, 81416x2
Test Code:
DPE3
Prenatal Samples Accepted
Prenatal Exome Sequencing – Trio Analysis
Prenatal exome sequencing (PES) – Duo Analysis (maternal and fetal sample) is available for patients with abnormal ultrasound findings. 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. Maternal Cell Contamination (MCC) is required for this test, and cell culture may be necessary.
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 21 days from sample receipt, if requested. The final report will be available within 3-5 weeks. If a cell culture is needed, turnaround time may be an additional 2-4 weeks.
Technical Information
This test is performed by Next Generation Sequencing.
Specimen Requirements
Amniotic Fluid: Direct amniotic fluid will be accepted for analysis given there is sufficient volume for back-up culture to be established. A back-up culture at a reference lab OR GGC’s lab is required. Additional charges may apply if cell culture is required after receipt of the sample. If sending direct fluid for molecular analysis only, 10-20 ml of amniotic fluid is requested. Chromosome studies will require an additional 10-15 ml of fluid.
Cultured amniocytes/CVS: 2x T25 confluent flasks
Maternal Sample: A maternal sample is required. Accepted maternal sample types include whole blood in an EDTA/lavender top tube (4-5 ml), saliva/saliva swab, or extracted DNA (≥ 3 μg).
Chorionic Villi Sample (CVS): 10-50 mg of chorionic villi is requested in a sterile tube with CVS media. Direct testing on CVS is not available; an additional 1-3 weeks may be needed for cultures to grow.
Prenatal Testing Information
Prenatal diagnosis is available if one or more ultrasound findings are identified. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests.
Prenatal Specimen Requirements
Amniotic Fluid: Direct amniotic fluid will be accepted for analysis given there is sufficient volume for back-up culture to be established. A back-up culture at a reference lab OR Greenwood lab is required. Additional charges may apply if cell culture is required after receipt of the sample. If sending direct fluid for molecular analysis only, 10-20 ml of amniotic fluid is requested. Chromosome studies will require an additional 10-15 ml of fluid.
Chorionic Villi Sample (CVS): 10-50 mg of chorionic villi is requested in a sterile tube with CVS media. Direct testing on CVS is not available; an additional 1-3 weeks may be needed for cultures to grow.
Cultured amniocytes/CVS: 2x T25 confluent flasks
Maternal Sample: A maternal sample is required. Accepted maternal sample types include whole blood, saliva/saliva swab, and extracted DNA. Collect 3-4ml of whole blood in an EDTA (lavender top) tube. Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Saliva samples must be submitted in an approved saliva kit.
Blood and saliva kits are available by request.
Prenatal Transport Instructions
Amniotic fluid should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. FedEx is preferred.
CVS and cultured amniocytes should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. FedEx is preferred.
The blood specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Please contact the lab with any questions.
Extracted DNA should be sent at room temperature via overnight delivery.
Saliva is stable at room temperature and can be delivered via overnight or ground shipping.
Associated Tests
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC