FLUORESCENCE IN SITU HYBRIDIZATION (FISH) FOR DIGEORGE, VELO-CARDIOFACIAL & CATCH 22 SYNDROME
Marquette General Health System
Alpha Code |
F8814 | |
MGH LIS Test No |
8814 | |
Schedule |
Monday through Friday | |
Testing Time |
10 days/4-10 days | |
Testing Lab |
Mayo Labs | |
QORR Test Code |
F8814 | |
Type |
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Volume |
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Temperature |
Refrigerate | |
Preservative |
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Collection Info |
SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS: Amniotic Fluid Obtain specimen during 15th-16th week of gestation. Draw 20 mL of amniotic fluid in a sterile syringe (we strongly recommend American Pharmaseal amniocentesis tray). When using an American Pharmaseal amniocentesis kit, transfer the amniotic fluid into the transport containers. If American Pharmaseal 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 Mayo Medical Laboratories' Styrofoam container (Supply T329). 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. (Keep specimen cool with frozen coolant April-October. Protect specimen from freezing by placing it in a bubble-pack bag (Supply T055) supplied by Mayo Medical Laboratories. Use refrigerated coolant November-March). SPECIMEN CANNOT BE FROZEN. Advise Express Mail or equivalent if not on courier service. Results will be reported and also telephoned. NOTE: Please complete a "Cytogenetics/AFP Congenital Disorders Request Form" (Supply T238) and forward it with the specimen. This form is supplied by Mayo Medical Laboratories. Blood Draw blood in green-top (sodium heparin) tube(s) and send 5.0-8.0 mL (pediatric: 2.0 mL) of sodium heparin blood. Invert several times to mix blood. (CLOTTED BLOOD IS NOT ACCEPTABLE). Other anticoagulants may be harmful to the viability of the cells. Label vial with patient's name and laboratory control number. Send specimen refrigerated. (Keep specimen cool with frozen coolant April-October. Protect specimen from freezing by placing it in a bubble-pack bag (Supply T055) supplied by Mayo Medical Laboratories. Use refrigerated coolant November-March). SPECIMEN CANNOT BE FROZEN. Promptly mail by Priority Mail to Mayo Medical Laboratories. NOTE: Please complete a "Cytogenetics/AFP Congenital Disorders Request Form" (Supply T238) and forward it with the specimen. This form is supplied by Mayo Medical Laboratories. Chorionic Villus Obtain 20 mg of a chorionic villus specimen (CVS) by the transabdominal or transcervical method. Transfer the CVS to a Petri dish containing transport medium. Using a stereo microscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots. Transfer the CVS by using sterile technique, to one or two 15-mL centrifuge tube(s) with 15 mL of transport medium. (Petri dishes and transport medium [Supply T095] are supplied by Mayo Medical Laboratories.) Label the centrifuge tube(s) with patient's name and laboratory control number. Send specimen refrigerated. (Keep specimen cool with frozen coolant April-October. Protect specimen from freezing by placing it in a bubble-pack bag (Supply T055) supplied by Mayo Medical Laboratories. Use refrigerated coolant November-March). SPECIMEN CANNOT BE FROZEN. Promptly mail by Priority Mail to Mayo Medical Laboratories. NOTE: Please complete a "Cytogenetics/AFP Congenital Disorders Request Form" (Supply T238) and forward it with the specimen. This form is supplied by Mayo Medical Laboratories. Skin Biopsy Wash biopsy site with an antiseptic soap (e.g., pHisoHex). Thoroughly rinse area with sterile water. Do not use alcohol or iodine preparations. A local anesthetic may be used. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis. Biopsy should be 3 mm x 5 mm in area. Asceptically place biopsy in a screw-capped, sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline. (Hank's balanced salt solution [Supply T132] is supplied by Mayo Medical Laboratories). Do not handle with hands. Label container with patient's name and laboratory control number. Send specimen refrigerated. (Keep specimen cool with frozen coolant April-October. Protect specimen from freezing by placing it in a bubble-pack bag (Supply T055) supplied by Mayo Medical Laboratories. Use refrigerated coolant November-March). SPECIMEN CANNOT BE FROZEN. Promptly mail by Priority Mail to Mayo Medical Laboratories. NOTE: Please complete a "Cytogenetics/AFP Congenital Disorders Request Form" (Supply T238) and forward it with the specimen. This form is supplied by Mayo Medical Laboratories. |
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Clinical Utilities CPT Codes Reference Range
88271x2, 88275
In normal individuals, each metaphase should show a normal
signal pattern. Individuals with a deletion should show an
abnormal signal pattern in each metaphase.
NOTE: These probes are for investigational use only and should
not be used for diagnosis without confirmation by another
proven procedure. The efficacy of these probes is reported
by Crifasi PA, et al: Mayo Clin Proc 70:1148-1153, 1995.
Component Information
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