Prenatal CMA concurrent with Prenatal Exome-to-Genome Reflex

Important Information

Prenatal Whole Genome Chromosomal Microarray (Prenatal CMA) with concurrent Prenatal Exome-to-Genome Reflex, trio. Separate result reports will be issued for the prenatal CMA analysis, the Exome Interpretation of the Prenatal Exome-to-Genome Reflex, and the Genome Interpretation (if reflex is activated) of the Prenatal Exome-to-Genome Reflex.

The Prenatal Exome-to-Genome Reflex test uses genome sequencing data to provide a report of the exome interpretation, including variants that are present within the coding regions of the genome that are most likely to explain the fetal findings. If the exome interpretation does not sufficiently account for the fetal phenotype, then reflex to a genome interpretation is automatically activated, enabling a second report that includes additional variants present in the non‑coding genome regions and select repeat expansions.

Due to the shorter turnaround time (TAT) for this test, it is strongly recommended that the fetal specimen and biological parental specimens are submitted at the same time, along with any required clinical information (i.e., ultrasound reports, consult notes, etc.) in order to initiate testing as soon as possible. If family member samples are not submitted with the fetal sample, the indicated family member samples MUST BE RECEIVED WITHIN 7 CALENDAR DAYS. Fetal testing will remain on hold during this time frame, pending receipt of the family member specimens.

The receipt of parental specimens will not impact the initiation of chromosomal microarray. Parental specimens are still recommended for CMA as they may be tested, if received, for select variants that are identified in the proband to aid in interpretation.

If samples from the indicated family member are not received within the specified timeframe, testing will start with the samples received. Modifications to the test code may impact billing and any prior benefit investigations.

Family member samples submitted for testing should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection. Please list the fetus as the patient (proband). Failure to appropriately label specimens may result in test delays and/or sample rejection.

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order/requisition form and Sample Info Card submitted with the sample:

• Family member Name
• Family member Date of Birth
• Patient's Name
• Patient's Date of Birth
• Family member's relationship to patient

If all of the required information and/or samples are not available at the time the fetal specimen is submitted, please inform us by emailing [email protected]