Chromosomal microarray (CMA) testing looks for extra (duplicated) or missing (deleted) chromosomal segments, sometimes called copy number variants (CNVs). These include microdeletions and microduplications of chromosome segments, which are too small to see under a microscope but may contain multiple genes.•
Chromosome microarray will detect most abnormalities of chromosome number(trisomy, monosomy, etc.) including Down syndrome and balanced rearrangements of chromosome structure (translocations, etc.)
“Chromosome Microarray” test is a microchip-based testing that allows automated analysis of many pieces of DNA strand labeled on the microchip. CMA chips use labels or probes that bond to specific chromosome regions. Computer analysis is used to compare a patient’s genetic material to that of a reference sample. A difference between a patient’s DNA and the reference sample is called a variant.
Developmental delay/Intellectual impairment.•
Autism spectrum disorders.•
Multiple congenital anomalies, including dysmorphic facial features.•
Unexplained seizure disorder.•
Chromosome abnormalities in the product of conception in the cases of recurrent pregnancy losses (RPL).•
Fetuses with abnormal ultrasound findings and normal karyotype.•
Follow-up documented chromosome abnormality or genomic alteration in a sibling or parent.•
Family history of previous child with mental retardation and/or phenotypic abnormalities.
Chromosome Microarray- Product of Conception (POC)•
Microarray-Whole Blood- Pediatric (developmental delay children)