Chromosomal Microarray (CMA)
A powerful tool used in genetic analysis to simultaneously measure the expression levels of thousands of genes or detect variations in DNA sequences including chromosomal aneuploidies and copy number variants like small deletions and duplications. It utilises a solid support, typically a glass slide or silicon chip, with an array of microscopic spots containing specific DNA probes or oligonucleotides.
Types of CMAs:
- Chromosomal Microarray (315 k)
- Chromosomal Microarray (750 k)
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At what point should CMA testing be considered?
Chromosomal Microarray testing is capable of identifying chromosomal abnormalities like aneuploidies (numerical changes in chromosomes) & structural alterations (such as deletions or duplications) in one or more chromosomes.
This testing is applicable to a fetus, an aborted fetus*, newborns, or any individual showing symptoms.
Chromosomal deletions or duplications can result in serious conditions, including:
- Recurrent pregnancy loss or miscarriages.
- Sudden infant death syndrome.
- Congenital anomalies like heart defects, cleft lip/palate, neural tube defects, etc.
- Developmental delays, autism spectrum disorder, and intellectual disabilities.
Disorders that CMA can detect
Chromosomal Microarray (CMA) testing can detect a range of conditions associated with intellectual disability, including:
- Angelman syndrome
- Wolf-Hirschhorn syndrome
- Williams syndrome
- DiGeorge syndrome
- Prader-Willi syndrome
It is also highly accurate in identifying numerous chromosome disorders early in pregnancy, including all known microdeletion and microduplication syndromes.
Additionally, CMA can detect various gains or losses in the telomeres (chromosome ends), which are significant contributors to many developmental disability syndromes.
Advantages that CMA testing offers to clinical practice
- Higher resolution
- Nearly double diagnostic yield
- Detection of maternal cell contamination
- Detection of uniparental disomy
CMA Sample Requirements
