FISH Analysis - Prenatal Aneuploidy
Use
FISH Analysis - Prenatal Aneuploidy Screen (+13/+18/+21/X/Y) assesses prenatal samples such as amniocytes and chorionic villus sampling cells for numerical abnormalities of chromosomes 13, 18, 21, X, and Y, specifically targeting aneuploidies, including Down syndrome (Trisomy 21), Patau syndrome (Trisomy 13), Edwards syndrome (Trisomy 18), Turner syndrome (45, X), Triple X syndrome (47, XXX), Klinefelter syndrome (47, XXY), and Jacobs syndrome (47, XYY). The test utilizes fluorescent dyes to visualize chromosome aneuploidy under a microscope. A normal FISH result does not rule out mosaicism for aneuploidy, structural rearrangements, or aneuploidy of other chromosomes.
Special Instructions
Prior consultation with our lab is mandatory for prenatal cases before sample submission. Our genetic counselors can assist with coordination and consultation for the testing process to ensure all prerequisites are met.
Limitations
The FISH assay determines gains or losses in specific chromosome regions but does not provide a comprehensive analysis of the full chromosomal landscape. It cannot detect mosaicism, nor can it identify structural rearrangements or abnormalities in other chromosomes. Chromosome analysis or chromosomal microarray analysis is required for all samples referred for FISH screening, ensuring thorough assessment.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
2-3 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid (Fresh)
Volume
20-30 cc in two 15 ml conical tubes
Minimum Volume
N/A
Container
Two sterile 15 ml conical centrifuge tubes
Collection Instructions
Discard the first 2 cc of fluid collected.
Storage Instructions
Ship at room temperature by overnight express; specimen must arrive within 48 hours and cannot be frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
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