Prenatal Genetic Test
Please contact the laboratory prior to sending a sample for
prenatal testing.
Specimen Requirements
Amniocentesis:
- Direct: at least 10-15cc
- Cultured: at least one T25 flask
- A back-up culture should be maintained at an
outside facility on both cultured and direct prenatal samples.
- 5ml of maternal whole blood drawn in a lavender top
tube (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.
Special Instructions
-
Familial Mutation Testing: If identification of a familial variant was not initially performed in our laboratory, please send 5 ml of peripheral whole blood drawn in a lavender top tube (K3EDTA) from the transmitting parent(s) and a copy of the genetic test lab report along with the prenatal sample. Confirmation of the familial mutation in our lab will help ensure the accuracy of the fetal DNA analysis.
Noonan Spectrum Chip: It is 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 5 ml of peripheral whole blood drawn in a lavender top tube (K3EDTA) for each parent.
Turn-Around-Time:
2 weeks for known mutation testing and most full gene sequencing tests. 5 weeks for the Noonan Spectrum Chip. Please contact the lab for more detailed information.
Cost:
Please add an additional charge of $950 to the cost of the gene test.
CPT Codes:
83891(2), 83898(1), 83904(3), 83909(1), 83912(1)
If you have any questions, please call the Laboratory
for Molecular Medicine at 617-768-8500 or email us at LMM@partners.org
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