Chromosome Analysis, Constitutional Peripheral Blood

Casandra

Casandra Test Code AR86868Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2002289CPT Codes 88230, 88262

Chromosome Analysis, Constitutional Peripheral Blood

Also known as: CHR PB

Clinical Use

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Use

Use this test to confirm the diagnosis of a known aneuploid syndrome or to detect a chromosome translocation. This test is intended for constitutional studies and is useful in cases of intellectual disability, multiple anomalies, and autism-spectrum disorders. It can also be employed in testing related to potential parental chromosomal rearrangements, which are important for recurrence risk counseling.

Special Instructions

Informed consent is required for New York State patients, and the relevant forms are linked on the ordering page. Specimens must be accompanied by a completed test request form indicating the clinical indication or reason for testing. If testing neonates, preliminary results are generally available in 2-3 days.

Limitations

The standard cytogenetic methodology may not detect small rearrangements, low-level mosaicism, or submicroscopic deletions or duplications that a genomic microarray analysis can. Counseling and further genomic analysis are recommended for better characterization of chromosomal rearrangements.

Test Details

New York Approved