A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
EPL Study cfDNA (Client 58745)
Test Code70630
CPT Codes
81479
Preferred Specimen
20 mL whole blood collected in two Streck cell-free (black/tan tiger top) glass tubes (10 mL in each tube)
Minimum Volume
8 mL in each tube
Instructions
Miscarriage diagnosed by ultrasound. Do not draw outside of 5-20 weeks gestation by ultrasound. Use Streck tubes
only.
only.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Refrigerated: Unacceptable
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Setup Schedule
A.M. Sets up 7 days a week.
Clinical Significance
The NIPS screens for fetal chromosomal abnormalities: trisomy 21, 18 and 13, as well as fetal sex. In addition, when a clear result is seen, will also report fetal sex aneuploidies and select microdeletions, including 22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), and 1p36 deletion syndrome as an additional finding.