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

Special Instructions

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

Expected Turnaround Time

2 - 3 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Amniotic fluid

Volume

5 mL amniotic fluid

Minimum Volume

3 mL (Note: This volume does 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

Test Details

Use

Fluorescence in situ hybridization (FISH), 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.

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511894 InSight Amnio FISH XY,13,18,21 511895 Cells Counted 64095-3
511894 InSight Amnio FISH XY,13,18,21 511896 Cells Analyzed 64092-0
511894 InSight Amnio FISH XY,13,18,21 511897 Cytogenetic Diagnosis 57317-0
511894 InSight Amnio FISH XY,13,18,21 511898 Cytogenetic Interpretation 55192-9
511894 InSight Amnio FISH XY,13,18,21 511901 Specimen Type 31208-2
511894 InSight Amnio FISH XY,13,18,21 511902 Director Review: 48672-0
511894 InSight Amnio FISH XY,13,18,21 512123 PDF 51967-8

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