What does SNP microarray testing detect?

SNP microarray testing is a powerful genomic tool that detects a variety of genetic alterations, including copy number variations (CNVs), single nucleotide polymorphisms (SNPs), regions of homozygosity (ROH), and uniparental disomy (UPD).

CNVs are segments of DNA that are either duplicated or deleted, leading to variations in the number of copies of a particular gene or region in the genome. This testing method is particularly effective for identifying such structural variations across the genome.

SNPs are single base pair changes in the DNA sequence, and the microarray can identify these variations across thousands of loci. This provides information about genetic diversity and can be crucial for understanding complex traits and diseases.

Regions of homozygosity (ROH) are stretches of the genome where both alleles are identical, often indicative of inheritance from a common ancestor or potential underlying genetic conditions when extended.

Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and no copies from the other, which can lead to disorders depending on the specific genes affected.

This diverse detection capability is why the answer that includes CNVs, SNPs, ROH, and UPD