For rapid detection of aneuploidy involving chromosomes 13, 18, 21, X, and Y. If the FISH results are abnormal, the specimen will reflex to chromosome analysis for mechanism determination. If the FISH results are normal, the specimen will reflex to genomic microarray.
If reflexed: 1-2 weeks required for chromosome analysis or microarray
- Patient Preparation
- Thaw media prior to collection. Chorionic villus in a sterile, screw-top container filled with tissue culture transport medium (ARUP Supply #32788). Available online through eSupply using ARUP Connect™ or contact ARUP Client Services at (800) 522-2787. If cytogenetics tissue media is not available, collect in plain RPMI, Hanks solution, saline, or ringers.
- Specimen Preparation
- DO NOT FREEZE. Do not place in formalin. Transport 20-30 mg chorionic villus (CVS) specimen in a sterile, screw-top container filled with tissue culture transport medium. (Min: 10 mg)
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Specimens preserved in formalin.
- Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Maternal Cell Contamination: For maternal cell contamination studies in the event that FISH is normal and testing is reflexed to genomic microarray, please submit maternal blood and order Microarray Genomic, Maternal Confirm (ARUP test code 2002369) accompanied by a test request form for the mother (this test is performed at no charge). For questions regarding ordering please contact ARUP's genetic counselor at (800) 242-2787 ext. 2141.
The FISH analysis does not detect structural chromosome abnormalities, mosaicism, and other numerical chromosome abnormalities (excluding X, Y, 13, 18, and 21). In addition, false-positive or negative results, as well as maternal cell contamination, have been demonstrated in prenatal FISH analysis. The American College of Medical Genetics recommends that irreversible therapeutic action should not be initiated on the basis of FISH results alone.
The chromosome analysis studies involve culturing of living cells; therefore, turnaround times given represent average times which are subject to multiple variables.
A processing fee will be charged if this procedure is canceled at the client's request, after the test has been set up, or if the sample integrity is inadequate to allow culture growth.
Specimen and completed test request form, including clinical indication, must be received within 48 hours of collection. This test must be ordered using Cytogenetic test request form #43097 or through your ARUP interface. Submit the Patient History for Prenatal Cytogenetics Testing form with the electronic packing list (available at available at http://www.aruplab.com/genetics/forms.php).
|Component Test Code*||Component Chart Name||LOINC|
|0040204||Chorionic Villus, FISH||55193-7|
- ARRAY FE
- chorionic villi
- CHR CVS
- Common trisomy FISH panel
- CVS FISH
- Down syndrome
- multiple congenital anomalies
- prenatal FISH
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Turner syndrome