Test ID: CMACB    
Chromosomal Microarray, Congenital, Blood

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 (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 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

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 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

• Informed Consent for Genetic Testing
• Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis
• Chromosomal Microarray Patient Information
• GenomeConnect Patient Portal
• Family Member Phenotype Information for Genomic Testing
• Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
• Informed Consent for Genetic Testing (Spanish)

Chromosomal Microarray (CMA) Using Applied Biosystems (Affymetrix) Cytoscan HD