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Chromosomal microarray analysis (CMA) (CAT#: STEM-GT-0019-WXH)

Introduction

Chromosomal microarray (CMA) is a cytogenetic test used to determine if there are chromosomal imbalances, either large (e.g. whole extra or missing chromosomes, also detected by standard karyotype) or smaller extra (micro-duplication) or missing (micro-deletion) pieces of genetic information, also called copy number variants (CNV). It is a microchip-based testing platform that allows automated analysis of many pieces of DNA at once.




Principle

In this test, a gene chip called microarray has 100s of tiny dots which contains DNA from all 46 chromosomes. Computer algorithms then identify and detect how much of this DNA sample is bound to the microarray chips and compare them against a reference DNA sample, thus being able to study the exact amount of missing or extra DNA.
The principle behind microarrays is that complementary sequences will bind to each other. The unknown DNA molecules are cut into fragments by restriction endonucleases; fluorescent markers are attached to these DNA fragments. These are then allowed to react with probes of the DNA chip.

Applications

The gold standard for the detection of deletions and duplications along the whole genome.
Detection of copy number variations
Detection of numerical chromosomal aneuploidy
Detection of unbalanced rearrangements
Detection of excessive homozygosity

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