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Test Code LABCOFISH CONSTITUTIONAL CYTOGENETICS, FISH, PRENATAL, ANEUVYSION

Specimen and Container/Tube

Chorionic villus
Amniotic fluid

Specimen Stability

Chorionic villus: Keep at room temperature if sample is delivered to the lab <24 hrs from collection. If transport delay is expected, keep at 4°C.

Amniotic fluid: Keep at room temperature if sample is delivered to the lab <24 hrs from collection. If transport delay is expected, keep at 4°C.

Note: Prolonged transport to the laboratory diminishes cell viability in cell culture.

Collection Instructions

Prior to collection of Chorionic Villus and Amniotic Fluid specimens: Call Cytogenetics at 773-702-6203 for collection containers and media as needed.

Specimen Handling and Transport Instructions

UCMC Onsite Instructions
Peripheral blood can be tubed directly to Cytogenetics via tube station #345

CVS, Amniotic fluid and Products of Conception: Call Cytogenetics at 773-702-6203 immediately after collection for sample pick up. Prenantal samples cannot be delivered in the tube station.

UCMC Offsite and UC MedLab Outreach Instructions
Chorionic Villus and Amniotic Fluid specimens: Arrange for independent courier to deliver specimens in provided collection tubes DIRECTLY to the Cytogenetics lab in Hyde Park. Notify the Cytogenetics lab at 773-702-6203 that a sample is being sent.

Rejection Criteria

Chorionic Villus: Specimens received >72 hours after collection

Amniotic Fluid: Specimens received >72 hours after collection

Reference Values

Results reported with current recommendations of the International Standing Committee on Human Cytogenomic Nomenclature (ISCN).

Clinical Indications

Aneuploidy FISH (AneuVysion) is indicated for the rapid diagnostic confirmation of fetal aneuploidy following positive prenatal biochemical or non-invasive (NIPT) screen for chromosomes 13, 18, 21, X and Y; positive findings by ultrasound, or relevent family history.

Test Components

Direct cell harvest
slide preparation
FISH analysis
interpretive report

CPT Codes

88271
88275

Methodology

Fluorescence in situ hybridization (FISH)

Additional Information

Test Limitations:  AneuVysion does not detect structural chromosome abnormalities, mosaicism, and numerical abnormalities of chromosomes other than 13, 18, 21, X and Y. Aneuvysion cannot detect maternal cell contamination at low levels or when the fetus is female.

Last Review Date

4/17/2025

Ordering Notes

For questions about aneuploidy FISH testing email #UCM-Cytogenetics-Lab, or CytogeneticsLab@uchicagomedicine.org

Volume

Chorionic villus: Preferred: >40 mg of villi devoid of blood clots and maternal decidua Minimum: 10 mg Amount needed by test: chromosome analysis: 15-20 mg; Aneuploidy FISH: 5 mg; SNP array (direct): 15-20 mg

Amniotic fluid: Preferred: >40ml fluid devoid of red blood cells or clots. Minimum: 30 mL
Amount needed by test: chromosome anlaysis: 10-15 mL, Aneuploidy FISH: 5 mL, AFP, CMV, Toxo, etc: 5 mL, SNP Array (direct): 15mL

Turnaround Time

Chorionic villus: 2 days
Amniotic fluid: 2 days

Synonyms/Key Search Words

FISH