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PRENATAL SAMPLE HANDLING

Amniotic cell/Chorionic villi cells:

Amniotic fluid can be used for testing either as direct sample or from cultured cells. A minimum of 15cc of amniotic fluid is required for direct testing and should be sent on wet ice or with refrigerant. Because cell number may be variable, our ability to extract sufficient cell number/DNA for testing, particularly from amniotic fluid samples taken "early", may be limited. Back-up cell culture should be maintained at the referring institution and this may be requested for subsequent testing.

Alternatively, referring institution should establish a cell culture by standard techniques and grow 2-T25 flasks to confluency for transport. T25 flasks can be sent directly at room temperature by overnight express mail. Cells may also be harvested and pelleted into a sterile 15 ml centrifuge polypropylene (cloudy plastic) tube, washed in sterile cell culture medium without serum, decanted and frozen for transport. If the later protocol is followed, cell pellets should be sent frozen on dry ice by overnight mail service. Again, back-up cell culture should be maintained at the referring institution.

Chorionic villus biopsy (CVS) can be assayed in direct sample or from cultured cells. A minimum of 10 mg of CVS sample should be sent refrigerated by overnight mail. Alternatively, CVS culture can be established and 2-T25 flasks grown to confluency. Cells can be sent at room temperature in T25 flasks or may be harvested, pelleted into a sterile 15 ml centrifuge polypropylene tube, washed in sterile cell culture medium without serum, decanted and frozen. Cell pellets should be sent frozen on dry ice by overnight mail service. For either direct CVS or cultured CVS, back-up cell culture should be maintained at the referring institution.

Please include with all samples a clinical summary and family pedigree. Send by Federal Express overnight delivery. We would appreciate a telephone call or fax indicating that samples have been sent.

Samples should be sent to:

MGH Neurogenetics DNA Diagnostic Lab
Massachusetts General Hospital
CRP Building North
5th Floor, Suite 5240
185 Cambridge Street
Boston, MA 02114
Tel # (617) 726-5721
Fax # (617) 724-9620

kaburke@partners.org