Whole Genome Chromosomal Microarray (CMA-ISCA)

Individuals with an unexplained abnormal phenotype, such as:
- Global developmental delay/intellectual disability, with or without dysmorphic features
- Autism/autism spectrum disorder (ASD)/pervasive developmental disorder (PDD)
- Dysmorphic features, multiple congenital anomalies, or birth defects
- Heart defects
- Epilepsy and seizures
Individuals with normal G-banded chromosome analysis but with an abnormal phenotype
Individuals who wish to screen for known microdeletions and microduplications associated with syndromes/clinical phenotypes
Individuals who wish to screen for unique microdeletions and microduplications
Individuals with suspected uniparental disomy (UPD)
Family members of a patient with an identified genomic deletion or duplication who want to know their carrier or predisposition status

Who is this test for?	Individuals with an unexplained abnormal phenotype, such as: Global developmental delay/intellectual disability, with or without dysmorphic features Autism/autism spectrum disorder (ASD)/pervasive developmental disorder (PDD) Dysmorphic features, multiple congenital anomalies, or birth defects Heart defects Epilepsy and seizures Individuals with normal G-banded chromosome analysis but with an abnormal phenotype Individuals who wish to screen for known microdeletions and microduplications associated with syndromes/clinical phenotypes Individuals who wish to screen for unique microdeletions and microduplications Individuals with suspected uniparental disomy (UPD) Family members of a patient with an identified genomic deletion or duplication who want to know their carrier or predisposition status
Method	CMA
Specimen(s)	Blood, Buccal, Saliva, Tissue

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