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Our diagnostic yield of 10% is comparable to, and supplementary to, the diagnostic yield of existing microarray testing for large chromosomal rearrangements and targeted CNV detection.
All these individuals had also undergone chromosome microarray testing for pathogenic structural variants (81% by genome-wide single nucleotide polymorphism array; 19% by array comparative genomic hybridization).
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This study further supports the AmpliChip Leukemia Test program, a gene expression microarray test for the subclassification of leukemia.
In a validation trial of a DNA microarray test for chlamydiae we repeatedly observed false-positive PCR amplicons from truly negative samples and non-template controls.
Insurance does not always pay for microarray testing since it is not considered the standard of care for prenatal testing.
For cytogenetic and microarray testing, the most recent International System for Human Cytogenetic Nomenclature (ISCN) nomenclature should be used.
The window of opportunity for microarray testing might also be limited.
Only samples previously tested with the Versant™ HCV assay were available for microarray testing.
A description of all the pools required for microarray testing is presented in Table 3.
At enrollment, additional samples were collected for microarray testing and immunological assessments (see below).
In a retrospective screen of 9773 individuals referred for microarray testing, Rosenfeld et al found that 77 carried chromosome 16p11.2 anomalies (45 deletions, 32 duplications, 0.78%).
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