Prenatal Testing

The Laboratory for Molecular Medicine offers prenatal testing for most of the clinical testing that we offer. For more information about prenatal testings, and PRIOR TO SENDING ANY PRENATAL SPECIMENS, please contact the lab at 617-768-8500.

  • Cost: Please add an additional charge of $950 to the cost of the gene test to cover MCC studies, additional confirmations, and rush processing.
  • CPT Code: 81265
  • Turn-Around-Time: 2 weeks for familial variant testing, 3 weeks for most full gene sequencing tests, and 6-8 weeks for the Noonan Spectrum Panel. We will do everything possible to minimize TAT for prenatal specimens if RUSH testing is requested. Please contact the lab for more detailed information.

Specimen Requirements

For prenatal testing requirements, our lab requires:

  • Prenatal Sample
    • Cultured: at least one T25 flask* OR
    • Direct: at least one 10-15cc 
  • Maternal whole blood (7 ml) in a lavender top tube (K2EDTA or K3EDTA)
  • A complete requisition form for each sample
  • A back-up culture should be maintained at an outside facility on both cultured and direct prenatal samples.

The 7ml of maternal whole blood drawn in a lavender top tube (K2EDTA or K3EDTA) must accompany the prenatal sample for the purpose of maternal cell contamination studies. Please use a separate requisition and consent form for this sample. A completed requisition form including date and time of collection, must accompany each sample; the patient or patient's parent or guardian must sign the informed consent statement on the back of the form.

Sample Labeling:
  • Please label sample and requisition form with at least 2 unique patient identifiers (name, date of birth, MRN).
  • Send in sample with completed requisition form and signed patient consent form.
  • Incomplete or missing paperwork may delay the start of testing.

 

Special Instructions

Familial Mutation Testing: If identification of a familial variant was not initially performed in our laboratory, please send 7 ml of peripheral whole blood drawn in a lavender top tube (K2EDTA or K3EDTA) from the transmitting parent(s) and a copy of the genetic test lab report along with the prenatal sample. Confirmation of the familial variant in our lab will help ensure the accuracy of the fetal DNA analysis.

Noonan Spectrum Panel: It is strongly suggested that parental samples be sent at the time of testing in the event that a novel variant is identified. This will facilitate the determination of a variant's pathogenicity by analyzing its segregation in a pedigree. Please send 7 ml of peripheral whole blood drawn in a lavender top tube (K2EDTA or K3EDTA) for each parent. Each sample must be accompanied by its own requisition form.

*Please note: To obtain enough DNA to run NextGeneration testing, a cultured sample is required.