EGL Genetics offers both Cytogenetic and Molecular prenatal testing options. Molecular prenatal testing is performed by known mutation analysis with the exceptions of L1CAM, PKHD1, and TAR syndrome testing. In these cases, full gene sequence analysis or TAR syndrome panel testing can be performed on prenatal samples when indicated by ultrasound findings. EGL does not perform biochemical prenatal diagnosis.
Please call (855) 831-7447 to speak with a laboratory genetic counselor prior to ordering prenatal testing.
Prenatal Molecular Genetic CPT Codes
Informed Consent for Molecular Prenatal Genetic Testing
Informed Consent for Prenatal Chromosomal Microarray Testing
- A maternal blood sample must accompany the prenatal sample to test for maternal cell contamination (MCC). A paternal sample may also be required (see below).
- The indications for prenatal testing must be specified on the requisition.
- Amniocyte and chorionic villus samples are acceptable for direct analysis for many molecular tests. However, a culture must be started either by the referring laboratory or by EGL Genetics. Culturing samples for molecular tests performed at EGL incurs a charge and must be specifically ordered.