Prenatal Aneuploidy Panel, FISH, Amniotic fluid

WSLH Department: Cytogenetics
WSLH Test Code: 873
Availability: Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time: Approximately 1-3 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses: Pregnancies at high risk for fetal aneuploidy.
Additional Tests Performed:
Patient Preparations:
Specimen Requirements: 2-5ml amniotic fluid (in addition to specimen collected for chromosome analysis)
Specimen Handling & Transport: Store and transport specimens at room temperature (may transport with coolant during hot weather, >85 degrees F ). DO NOT FREEZE. The laboratory must receive specimens within 24 hours of collection.
Collection Kit/Container:
Collection Instructions: Collect amniotic fluid under sterile, ultrasound guided conditions using a 22-gauge needle inserted through the uterine wall and into the amniotic cavity. Discard the first 1-2ml of amniotic fluid to minimize the possibility of maternal cell contamination. Dispense amniotic fluid into a sterile 15 ml centrifuge tube.
Unacceptable Conditions: Specimens contaminated with maternal blood are not appropriate since maternal blood cells in the specimen may not be distinguishable from female fetal cells by this test. Sample must not be frozen.
Requisition Form: Cytogenetics Lab Genetic Diagnosis Form #131
Required Information: Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, gestational age, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results Include: Evidence/no evidence of trisomy 13, 18, and/or 21. Sex chromosome signal pattern.
Limitations: FISH results reflect copy number only for the loci of the probes used, and do not rule out isochromosomes or other structural abnormalities of chromosomes 13, 18, 21, X, and Y.
Note: using the AneuVysion assay, one (0.003%) false positive and seven (0.024%) false negative results were documented in 29039 cases (Tepperberg et al., Prenatal Diagnosis 2001;21:293-301).
Additional Tests Recommended:
Additional Comments: It is suggested that chromosome analysis (test 850) be performed in conjunction with the FISH assay.
Methodology: Fluorescence in situ hybridization using DNA probes for chromosomes 13, 18, 21, X, and Y (AneuVysion Prenatal Test, Abbott Molecular)
Includes: FISH analysis of uncultured amniotic fluid cells to determine copy number of chromosomes 13, 18, 21, X, and Y.
CPT Code: 88271x5, 88275
Price: For pricing information, please call 608-262-0402.
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