Prenatal Guidelines

PreventionGenetics should be notified in advance of arrival of a prenatal specimen. For all prenatal testing in ongoing pregnancies, we require a signature from the health care provider on our PRENATAL HEALTH CARE PROVIDER'S STATEMENT FORM. We expect that the ordering provider will take responsibility for the appropriateness of the requested testing.

We accept fetal DNA, fetal tissue, cultured fetal cells, or direct CVS/amniotic fluid. However, acceptable specimen type is dependent on the fetal testing requested (see page 7 for more information). Retention of a backup culture of the fetal cells is strongly recommended. Where possible, please ship cultured cells so that they will arrive at PreventionGenetics no later than Thursday in the work week. PreventionGenetics does not perform cell culture.

Maternal cell contamination (MCC) of fetal sample will be tested using the PreventionGenetics DNA Genotyping Panel. Even in cases of autosomal dominant disorders in which the father has the causative variant, blood or DNA from the mother is strongly encouraged to be sent for the MCC test. We do not charge extra for MCC studies for any fetal testing, but the CPT Code, 81265, will be included on invoices and insurance claims as appropriate. We require at least one parental specimen be sent as part of prenatal testing for quality assurance purposes.

At this time, PreventionGenetics is not validated to offer prenatal testing for MLPA or repeat expansion testing. We cannot offer whole exome sequencing (WES) or chromosomal microarray (CMA) for ongoing pregnancies. PreventionGenetics does not perform prenatal testing for sex. We will also not report fetal sex unless this is critical for interpretation of test results. PreventionGenetics does not perform pre-implantation DNA testing.

See our "Specimen Requirements" for acceptable prenatal specimens.


Familial Variant Testing (Test Code 990, $990) Order

Familial variants must be known in advance from testing of parents, affected siblings or other relatives. These variants must be confirmed at PreventionGenetics in the parents and/or proband. Parental specimens may be sent in advance of the prenatal specimen. Additional CPT codes for parental and MCC testing may be included at time of invoicing. We require at least one parental specimen be sent for all targeted prenatal testing requests.
Turnaround Time: 8-10 calendar days from receipt of specimen and signed PROVIDER'S STATEMENT.


NextGen Sequencing (see standard prices listed on our web site)

We will perform NextGen tests for ongoing pregnancies.
Turnaround Time: The great majority of NGS tests are completed within 28 days from date of specimen and signed PROVIDER'S STATEMENT receipt. Our formal STAT option is not available. We will courtesy prioritize requests related to ongoing pregnancies.


Full Gene Sequencing (see standard prices listed on our web site)

We will perform Sanger full gene sequencing tests for ongoing pregnancies.
Turnaround Time: The great majority of Sanger tests are completed within 18 days from date of specimen and signed PROVIDER'S STATEMENT receipt for a single gene. Our STAT option is available for a 25% additional charge. The great majority of STAT requests are completed within 8 calendar days. If we are unable to complete STAT requests within 10 days, the surcharge will be waived. We will courtesy prioritize requests related to ongoing pregnancies.


Deletion/Duplication Analysis via Gene-Centric aCGH Test (see standard prices listed on our web site)

We will perform gene-centric aCGH for prenatal specimens. See our full Test Description for details and limitations. At this time MLPA is not validated for prenatal specimen types. If a copy number variation (CNV) was identified via gene-centric aCGH and was confirmed by PCR in the proband, the PCR-based test is an option for a subsequent pregnancy only when the father is a carrier of the CNV. When the mother is a carrier, prenatal testing must be performed by aCGH due to the possibility that even a low level of maternal cell contamination may affect the interpretation of a PCR-based test. Please contact our genetic counseling team to discuss any familial CNV situations.
Turnaround Time: The great majority of gene-centric aCGH tests are completed within 14 days from date of specimen and signed PROVIDER'S STATEMENT receipt. Our STAT option is available for a 25% additional charge. The great majority of STAT requests are completed within 8 calendar days. If we are unable to complete STAT requests within 10 days, the surcharge will be waived. We will courtesy prioritize requests related to ongoing pregnancies.


Testing in Cases of Fetal Demise or Pregnancy Termination (see standard prices listed on our web site)

In the case of fetal demise or pregnancy termination, no "PRENATAL HEALTH CARE PROVIDER'S STATEMENT" is required. Our standard specimen requirements and turnaround times apply.