Specimens for Molecular Studies

To ensure a successful outcome please follow the guidelines listed below when collecting specimens:

Blood

For every patient collect 3-5 cc of peripheral blood in a large EDTA tube with the purple top. For NF1 sequencing only, an additional 3-5 cc of peripheral blood is required, please collect sample in a sodium heparin tube with the dark green top. The blood must be kept at room temperature or cooler, do not freeze. Before shipping, write the patient's name on the container the specimen is being transported in. When completing the sequencing requisition form please include a reason for study.

Amniotic Fluid ( NF1 Sequencing Only)

Sequencing will only be performed on amniotic fluid specimens if one or both of the parents have laboratory confirmed diagnoses of NF1. Please send a copy of that report. Collect 15-20 ml of amniotic fluid and sterilely transfer the fluid to a screw top centrifuge tube to ensure limited exposure of the fluid to the syringes used for collection. Please record the patient's gestational age on the requisition form. Keep the specimen cool but do not freeze. If possible we prefer to receive cultured amniocytes in two t-25 flasks.

Buccal Swab (MCAD Sequencing Only)

Collect 3 DNA samples with nylon brushes by rubbing the brush firmly along the inside of the cheek for 10-15 seconds. Then place the cap on the brush, making sure it is tightly sealed.

 

If you have any questions please contact our staff at (405)271-3589 and we will be happy to assist you.