AneuVysion®: +13/+18/+21 /X/Y
Test Code
F ANEU
Test Synonyms
13q14, CEP 18, CEP 21, CEP X, CEP Y
Associations
Trisomy 13, trisomy 18, trisomy 21, aneuploidy X or Y
Methodology
Fluorescence in situ Hybridization (FISH)
CPT Codes
88368 x5
Turnaround Time
2 days
Specimen Requirements
- 5.0 mL amniotic fluid in 2-3 sterile tubes is sufficient for Aneuvysion®, analysis can be attempted on smaller volumes
- Products of conception or fetal tissue in sterile tissue culture media
Specimen Stability
Specimen stable for 48 hours at 18-25°C
Storage & Handling
- Ship ambient overnight and for Saturday delivery
- Ship Saturday for Monday delivery. If sample is protected from temperature extremes
Causes for Rejection
Specimen exposed to extreme temperature; Collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative
Reference Range
Normal analysis: XX or XY with no evidence of aneuploidy for chromosomes 13, 18 or 21
Description
Trisomy 13, trisomy 18 and trisomy 21, and numerical errors of the sex chromosomes (X and Y) constitute the most common chromosome abnormalities observed at prenatal diagnosis. AneuVysion® is an FDA-cleared product that utilizes DNA probes specific for chromosomes 13, 18, 21, X and Y to permit enumeration of these chromosomes in uncultured (interphase) cells.
A major benefit of using uncultured cells is that test results are typically available within 24 hours of sample receipt, significantly reducing maternal anxiety. Another advantage of AneuVysion® is the ability to implement pregnancy management options in a timely manner when abnormal FISH results are associated with atypical ultrasound findings or other unfavorable clinical information. The ability to perform chromosome enumeration on uncultured cells is also a valuable alternative in the event of growth failure or suboptimal growth of cultured cells.
Although AneuVysion® is highly accurate in detecting aneuploidy of chromosomes 13, 18, 21, X and Y, this test does not detect other numerical abnormalities or structural chromosome aberrations. Prenatal FISH studies should be accompanied by routine cytogenetic analysis to confirm a normal fetal karyotype.
A major benefit of using uncultured cells is that test results are typically available within 24 hours of sample receipt, significantly reducing maternal anxiety. Another advantage of AneuVysion® is the ability to implement pregnancy management options in a timely manner when abnormal FISH results are associated with atypical ultrasound findings or other unfavorable clinical information. The ability to perform chromosome enumeration on uncultured cells is also a valuable alternative in the event of growth failure or suboptimal growth of cultured cells.
Although AneuVysion® is highly accurate in detecting aneuploidy of chromosomes 13, 18, 21, X and Y, this test does not detect other numerical abnormalities or structural chromosome aberrations. Prenatal FISH studies should be accompanied by routine cytogenetic analysis to confirm a normal fetal karyotype.
References
- Homer et al. (2003). Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH). Prenat Diagn. 23(7):566.
- Tepperberg et al. (2001). Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn. 21(4):293.
Trademarks
AneuVysion is a registered trademark of Vysis, Inc.
