GeneDx now offers a novel test for deletion/duplication testing of clinically significant genes that play a role in disorders resulting from loss of function or haploinsufficiency. This test, called ExonArrayDx, employs DNA microarray-based array CGH to detect deletions or duplications of single genes but also of individual exons and introns within target genes. Intragenic mutations that are as small as 150-300bp can be identified with this microarray test.

This test has greater technical sensitivity and is more cost-effective than other quantitative methods used to evaluate gene-specific copy number, such as multiplex ligation-dependent amplification (MLPA) or quantitative PCR (qPCR). The ExonArrayDx array contains more probes per gene and covers all exons and introns of a target gene. 

With the ExonArrayDx assay, it is possible to examine one or more genes from a list of 467 clinically significant genes associated with: 

• Autosomal dominant developmental disorders caused by haploinsufficiency
• Multiple congenital anomaly syndromes
• Inherited (familial) cancer and genome instability syndromes
• Autosomal recessive metabolic disorders
• X-linked mental retardation
• Autism spectrum disorders
• Inherited cardiac disorders
• Genetic eye disorders 

Please visit the ExonArrayDx webpage for more information.