Chromosomal Microarray, Congenital, Blood

Casandra

Casandra Test Code MC44622Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CMACBCPT Code 81229

Chromosomal Microarray, Congenital, Blood

Clinical Use

Use

This test serves as a first-tier, postnatal testing method for individuals exhibiting multiple anomalies that are not specific to well-delineated genetic syndromes, or those with nonsyndromic developmental delays, intellectual disabilities, or autism spectrum disorders, as recommended by the American College of Medical Genetics and Genomics. It is also utilized for follow-up testing in patients with unexplained developmental delays, intellectual disabilities, or congenital anomalies with previously normal chromosome studies. This chromosomal microarray can determine the size, precise breakpoints, gene content, and reveal complexities of abnormalities not detected by other lower-resolution methods. It also assesses regions of homozygosity related to uniparental disomy or identity by descent.

Special Instructions

Not provided.

Limitations

This test does not detect balanced chromosome rearrangements or all types and instances of uniparental disomy, and it is not designed to detect mosaicism, although it might be detected in some cases. The test does not detect point alterations or small deletions or insertions below the assay’s resolution limits. The chromosomal microarray data does not provide information about the structural nature of an imbalance. There are also factors like improper specimen collection or transportation that may interfere with the test performance.

Test Details

New York Approved