Genomic Copy Number Microarrays for Constitutional Genetic and Oncology Applications
|Publication Date:||1 August 2015|
This guideline provides recommendations for the appropriate performance, validation or verification, and interpretation of nucleic acid microarrays used primarily for cytogenetic applications to measure copy number (CN) imbalances, traditional array-based comparative genomic hybridization (aCGH), and single nucleotide polymorphism (SNP) arrays for CN imbalances and absence of heterozygosity (AOH). Both constitutional (prenatal/postnatal)
The intended users of this guideline are clinical genetics laboratorians who perform cytogenetics and molecular genetics testing.
• Is not intended for research laboratorians
• Is not intended to provide guidance to manufacturers
• Does not address methylation arrays, RNA expression microarrays, resequencing and genotyping arrays not intended for CN detection, microarrays for the diagnosis and monitoring of infectious diseases, or non-nucleic acid microarrays (eg, protein arrays)