Yet in comparison with traditional cytogenetic analysis, CNV arrays have a significantly increased diagnostic yield [ 76, 77] and studies using microarray testing have identified pathogenic CNVs in approximately 10%to20%0% of individuals with idiopathic ID [ 73, 78- 80].
Although Potocki-Lupski syndrome was clinically characterized previously [ 89], the use of microarray-based testing has greatly improved the characterization of phenotypic spectrum and molecular analysis of the duplications found in the syndrome [ 90].
"They are just not prepared for the uncertain information they are getting, often very late in a pregnancy," said Barbara A. Bernhardt, a genetic counselor at the University of Pennsylvania, who has interviewed women who have had microarray testing.
Microarray test methods have proven to be powerful tools for viral identification and subtyping [ 2, 22- 25].
However, DNA microarray testing and analysis has evolved over many years through studies such as the MicroArray Quality Control (MAQC) project [ 65, 66] and further studies and cost reductions in sequencing are similarly required to develop RNA-seq analyses.
Advances in molecular genetic testing have greatly improved diagnostic rates in EIEE, and this report further confirms the important role of microarray investigation in this group of disorders.
Microarray analysis showed all the strains tested had a single neurotoxin encoding gene with the type B gene associated with ha cluster, and type E toxin genes and type F toxin genes associated with orfX cluster.
In addition, microarray data revealed other exposure effects that traditional tests had missed.
The use of microarray testing in individuals with ASD and MCA has significantly increased the rate of identification of an underlying genetic etiology.
We identified eight individuals with duplications and three with deletions spanning NUDT21, all of whom had undergone clinical chromosome microarray testing.
