1. All microdeletions/microduplications throughout the genome including many known syndromes.
2. All numerical chromosome abnormalities including trisomies, monosomies, unbalanced translocations, mosaicism and supernumerary (marker) chromosomes.

BENEFITS: This new advance is valuable and important and WILL:

1. Enable recognition of significant and often unexpected microdeletions/duplications throughout the genome (Y-chromosome excluded). The coverage is MORE EXTENSIVE AND LESS EXPENSIVE THAN ANY OTHER EQUALLY COMPREHENSIVE AVAILABLE MICROARRAY.
2. Recognize microdeletions/duplications not determinable by gene sequencing and be valuable in detecting these abnormalities in about 10% of those with autism.
3. Add a 10-20% detection rate to the diagnosis of unexplained intellectual disability/congenital malformations after negative results on karyotyping.
4. Not only target specific disorders, as in other microarrays, but cover the genome including subtelomeric regions, supplemented by an additional assay at no extra cost.
5. Be valuable in those individuals with intellectual disability and/or anomalies who have previously been determined to have “balanced chromosome rearrangements.”
6. No longer require separate assays for routine comparative genomic hybridization or subtelomeric chromosome analysis.
7. Recognize uniparental disomy for any autosomal chromosome pair (when specifically ordered).

LIMITATIONS:

1. Samples are analyzed at a resolution of 50 Kb for known microdeletion/duplication syndromes and subtelomeric regions. The remaining genome is analyzed at a resolution of 200 Kb (deletions less than 200 Kb and duplications less than 500 Kb are not reported).
2. Balanced structural rearrangements (balanced translocations, inversions) will not be detectable.
3. Single gene mutations usually determinable by gene sequencing will not be detectable.