Additional Information

Microarray analysis is used in conjunction with gold standard conventional cytogenetic and FISH studies for evaluation of malignancies in children and adults. The choice of method for assessment of the genetic aberrations of malignant cells will be influenced by the differential diagnosis and the recurrent clonal aberrations known to be associated with particular disorders. Our copy number plus single nucleotide polymorphism (SNP) microarray platform views the entire genome at a resolution much higher than possible by conventional karyotyping or FISH analysis. This platform is designed to detect gains, losses, amplifications (copy number changes) and loss of heterozygosity (LOH). The array contains ~2.7 million copy number markers, including 750,000 SNP probes. Advantages: Detects gains, losses and amplification of genes or genomic regions. Detects aneuploidy. Detects loss of heterozygosity. Provides high resolution evaluation of the cancer genome. Limitations: Cannot identify truly balanced chromosomal aberrations, i.e., balanced translocations, inversion, etc., thus, FISH analysis may be needed to detect some disease-specific gene rearrangements. Cannot detect point mutations or epigenetic changes. Low level clonality may not be detected, thus microarray is not recommended for minimal residual disease testing.