Chromosome FISH, Metaphase

Casandra

Casandra Test Code AR25555Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2002299CPT Codes 88271, 88273

Chromosome FISH, Metaphase

Also known as: CHR FISHM

Clinical Use

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Use

The Chromosome FISH, Metaphase test is primarily used for detecting specific microdeletion or microduplication syndromes through Fluorescence in situ Hybridization (FISH). It involves the use of FISH probes to identify and analyze abnormalities at specific chromosome loci. This test is useful for confirming diagnoses related to chromosomal anomalies, such as Prader-Willi syndrome, Angelman syndrome, and others. Genetic counseling and informed consent are recommended, particularly for New York clients, where consent is mandatory.

Special Instructions

Desired FISH probe and pertinent clinical diagnosis are required with the test order. Absence of this information will delay turnaround time. It is recommended that all FISH studies be conducted in conjunction with routine cytogenetic analysis. A processing fee will be charged for canceled procedures or if the specimen integrity is inadequate to allow culture growth. Specific forms and consents are required for ordering, especially for New York clients.

Limitations

The test assesses only the DNA locus complementary to the FISH probe for enumeration and localization. It does not detect low-level mosaicism or copy number variations smaller than the probe target. Aneuploidy and other structural abnormalities are not ruled out. Additional testing might be necessary for comprehensive diagnosis, especially in symptomatic individuals. The assay's accuracy is subject to the type of specimen and probes ordered.

Test Details

New York Approved