Improved diagnostic options

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay

Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage disorder, a correspondingly developed approach involving scientists from CENTOGENE proved highly successful. These findings were published in Molecular Genetics & Genomic Medicine.