Chromosome FISH, Prenatal

Casandra

Casandra Test Code AR80206Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2002297CPT Codes 88271, 88275

Chromosome FISH, Prenatal

Also known as: CHR FISHP

Clinical Use

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Use

The Chromosome FISH, Prenatal test is designed for rapid detection of aneuploidy involving chromosomes X, Y, 13, 18, and 21. It is used in conjunction with chromosome studies to assess prenatal chromosomal abnormalities and potential neural tube defects. This test is important for early identification of chromosomal anomalies, allowing for informed genetic counseling and management decisions during pregnancy.

Special Instructions

This test requires submission with the Prenatal Cytogenetics Patient History Form and informed consent for genetic testing (specifically for New York patients). Proper specimen handling is crucial as frozen or bloody samples are unacceptable. The patient history form must accompany the sample, with clinical indication or reason for testing clearly noted. Counseling and informed consent are recommended for all patients undergoing genetic testing.

Limitations

The Chromosome FISH, Prenatal assay does not detect structural chromosome abnormalities, mosaicism, or other numerical chromosome abnormalities beyond X, Y, 13, 18, and 21. False positive or negative results may occur, and maternal cell contamination is a possibility. This FISH analysis should not be used as a sole basis for irreversible therapeutic decisions, and further chromosome analysis is recommended for comprehensive assessment. Approximately one-third of prenatal chromosome abnormalities might not be detected by this panel. The method is not approved by the FDA and is classified as a Laboratory Developed Test (LDT).

Test Details