|Test||HEXOSAMINIDASE A AND TOTAL HEXOSAMINIDASE, AMNIOTIC FLUID CELLS|
|Methodology||Heat Inactivation, Fluorometric, Manual|
|Description||Useful for prenatal diagnosing of Tay-Sachs disease and Sandhoff's disease
NOTE: BECAUSE OF THE NATURE OF TAY-SACHS PRENATAL DIAGNOSIS, IT IS IMPERATIVE THAT RESULTS OR INFORMATION, SUCH AS SPECIMEN INADEQUACY, REACH THE PHYSICIAN PROMPTLY. THEREFORE, WE REQUIRE THE NAME AND TELEPHONE NUMBER OF THE ORDERING PHYSICIAN TO ACCOMPANY THE SPECIMEN.
|Specimen||Please complete a Mayo Medical Laboratories "Tay-Sachs Disease Prevention Program Questionnaire" and send with specimen.
Obtain specimen during 17th - 18th week from last menstrual period. Draw 20 mL (minimum: 10 mL) of amniotic fluid in a sterile syringe (we strongly recommend Baxter amniocentesis tray). When using a Baxter amniocentesis kit, transfer the amniotic fluid into the transport containers. If Baxter amniocentesis tray is not available, use a Becton-Dickinson syringe and transport specimen as follows. Remove needle and transfer the specimen to 2 screw-capped, sterile 15-mL centrifuge tubes. Place the tubes in NorDx's StyrofoamŪ container. Fill remaining space with packing material. Unavoidably, about 1 - 2% of mailed-in specimens are not viable. Bloody specimens are undesirable. If your specimen does not grow in culture, you will be notified within 10 days of receipt. Label container with patient's name and laboratory control number. Send specimen refrigerated. SPECIMEN CANNOT BE FROZEN.
|Reference Values||No established reference values. Tay-Sachs amniocytes have absent or significantly depressed values of hexosaminidase A and will be compared with co-run control cells.|
|Analytic Time||14 - 28 days from initiation of culture depending on rapidity of growth|
|Day(s) Test Set Up||Monday through Friday|
83080 x 2