Table 2.
Clinically Significant Copy Number Aberrations Tested by CMA on Paired Blood and Saliva DNA
| Agilent (Genomic Workbench) |
Illumina (Bluefuse) |
Affymetrix (ChAS) |
||||
|---|---|---|---|---|---|---|
| Case | ISCN 2016 aberration nomenclature (blood) | Saliva | Blood | Saliva | Blood | Saliva |
| Proband | arr[hg19] 16p11.2(29656684_30190568)x1 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 21q22.11q22.12(35734654_35905168)x3 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] 15q13.2q13.3(30819465_32509926)x3 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] 3p26.3(2354154_2967372)x3 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] 11p14.3(22261179_22361577)x3 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] Xp22.31(6260533_7196120)x1 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] 2p14(69038958_69172533)x1 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 6q16.1(92505173_95065711)x3 | Detected | Detected | Detected | Detected | Detected |
| Parent | arr[hg19] 12q14.1(60338750_62223708)x1 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 10q26.13(125544062_125726005)x3 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 2p13.3(71584516_71712891)x3 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 8p23.2(3235094_3602403)x3 | Detected | Detected | Detected | Detected | Detected |
| Proband | arr[hg19] 15q21.1(47613566_47939687)x1 | Detected | Detected | Detected | Detected | Detected |
ChAS, Chromosome Analysis Suite; CMA, chromosomal microarray; ISCN, International Standards for Human Cytogenetic Nomenclature.