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Publications about genetic testing for metabolic disorders
  1. Improved diagnostic options

Improved diagnostic options

July 18, 2019

"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.