GeneDx now offers its third version of its high-resolution whole-genome oligonucleotide array CGH platform (GenomeDx). The new version 3 has a genome-wide coverage with average probe spacing of 37 kb and additional probe density (9-17 kb resolution) at over 150 clinically relevant loci (place link to table here). Specific dosage-sensitive genes have also been selected to contain ultra-high probe density (300bp-1 kb resolution). A highlight in this version is the inclusion of genomic regions and genes that have been recently reported to play a role in autism spectrum disorders. More than twenty autism-specific loci have been targeted to contain high probe density to identify gross pathogenic deletions and duplications.

GenomeDx data interpretation is carried out by ABMG-boarded cytogeneticists and molecular geneticists. An internal database of >2500 whole-genome array CGH cases tested at GeneDx is an useful asset for data interpretation. GenomeDx version 3 is backed up a highly efficient and sensitive combination of quantitative PCR and/or FISH analysis for confirmation of array results. The GenomeDx reports are among the most detailed and useful reports available from CLIA-certified clinical laboratories providing array CGH services. As with previous versions, parental testing for inheritance is free of charge. Testing of other family members is performed at a reduced cost.