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InSight: Prenatal Amnio Aneuploid (FISH) Testing for Chromosomes 13, 18, 21 and XY

TEST 511894
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Synonyms
  • Direct Amnio FISH
  • Direct Prenatal FISH
  • InSight FISH
  • Prenatal Aneuploid
  • Prenatal FISH
  • Prenatal FISH for 13, 18, 21, and XY

Test Details

Turnaround Time

2 - 3 days

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Use

This test is used for fluorescence in situ hybridization (FISH) and prenatal aneuploid evaluation FISH targeting numerical changes in 13, 18, 21, X, Y. If specimen volume is too small, then direct FISH may not be performed and results may be obtained if cultured chromosome studies are ordered.

Special Instructions

Pertinent medical findings should accompany request for FISH. It is required that InSight FISH testing be performed concurrently with prenatal chromosome analysis or microarray. Abnormal results should have banded chromosome confirmation.

Limitations

Molecular mutations below the resolution of FISH will not be detected; will not detect aneuploidy that is not targeted by FISH probes in this panel.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Fluorescence in situ hybridization (FISH)

References

Eiben B, Trawicki W, Hammans W, et al. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases. Fetal Diagn Ther. 1999 Jul-Aug;14(4):193-197.10420039
Schwartz S. Efficacy and applicability of interphase fluorescence in situ hybridization for prenatal diagnosis. Am J Hum Genet. 1993 May;52(5):851-853.8488835
Tepperberg J, Pettenati MJ, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multicenter retrospective study and review of the literature. Prenat Diagn. 2001 Apr;21(4):293-301.11288120
Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens. Am J Hum Genet. 1993 May;52(5):854-865.8488836

Specimen Requirements

Information on collection, storage, and volume

Specimen

Amniotic fluid

Volume

5 mL amniotic fluid

Minimum Volume

3 mL amniotic fluid (Note: Minimum volumes may not allow for repeat testing.)

Container

Sterile plastic conical tube

Storage Instructions

Maintain specimen at room temperature and transport to the cytogenetics laboratory immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.

Causes for Rejection

Frozen amniotic fluid; wrong specimen type; low specimen volume; specimen in fixative; glass containers and/or rubber stoppered tubes (rubber is toxic to amniocytes); hypocellular specimen

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