Test Catalog

Test ID: CMACB    
Chromosomal Microarray, Congenital, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as recommended by the American College of Medical Genetics and Genomics (ACMG)


Follow-up testing for individuals with unexplained developmental delay or intellectual disability, autism spectrum disorders, or congenital anomalies with a previously normal conventional chromosome study


Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods such as conventional chromosome and fluorescence in situ hybridization (FISH) studies


Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray


Assessing regions of homozygosity related to uniparental disomy or identity by descent

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test is not appropriate for detecting acquired copy number changes and excessive homozygosity. If this test is ordered with a reason for referral indicating a hematological disorder, the test will be cancelled and CMAH / Chromosomal Microarray, Hematologic Disorders, Varies will be performed as the appropriate test.


The following algorithms are available in Special Instructions:

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

-Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Chromosomal Microarray

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Chromosomal Microarray, Blood

Aliases Lists additional common names for a test, as an aid in searching

Array CGH
Array Comparative Genomic Hybridization
Oligonucleotide Array
Oligo Array
Single Nucleotide Polymorphism (SNP) Array
Whole Genome Array
Molecular Karyotype
Congenital Array
Constitutional Array
Absence of Heterozygosity (AOH)