Targeted aCGH can be useful in the diagnosis of mitochondrial and metabolic disorders. Wang et al. have developed a custom designed oligonucleotide aCGH platform targeting the entire mitochondrial genome and a set of nuclear genes involving mitochondrial and metabolic disorders. This technology can be used to evaluate large deletions, particularly as a complementary diagnostic test in the context of a recessive disease when only one mutant allele is found by sequencing. It also has applications in X-linked metabolic disorders when sequencing analysis for a female carrier is negative.
Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders. Wang et al. Mol Genet Metab. 2012 Jun;106(2):221-30. Epub 2012 Mar 21. PMID: 22494545
posted by Yannis Trakadis MD, MSc