Submitting a Sample

• All samples should be shipped via overnight delivery at room temperature.
• No weekend or holiday deliveries.
• Label each specimen with the patient’s name, date of birth and date sample collected.
• Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.

Specimen requirements: 3-10cc blood in an EDTA (purple top) tube (unless otherwise indicated)

*Prenatal tests: 20cc amniotic fluid, 20mgs chorionic villi, or 2 T25 flasks of cultured cells (please label cells on side of flask, not top or bottom).

Direct testing on Amniotic Fluid:  Often, we can isolate DNA directly from amniotic fluid for molecular testing.  For single mutation testing, we request 5cc of amniotic fluid, and for deletion/duplicaton analysis, we request 7cc of amniotic fluid.  Sometimes, we cannot get enough DNA and will need to request a back-up culture (2 T25 flasks).  5-7cc is not enough fluid to culture cells.  All of the fluid is used for DNA isolation.  Thus, we recommend that clients culture a back-up culture at their facility or elsewhere.  If you would like us to set up a back-up culture here, we request 20cc of amniotic fluid total.

For all prenatal testing: please send 3-10cc of mother’s blood in an EDTA/purple top tube to rule out maternal cell contamination.