Centogene n v signs new collaboration with ptc therapeutics for global diagnostic testing program
Centogene n.v. announced that it has signed an agreement with ptc therapeutics inc. (ptc) for a global diagnostic program for aromatic l-amino acid decarboxylase (aadc) deficiency. the testing program for aadc deficiency will provide physicians with much needed analysis of 3-o-methyldopa (3omd), a powerful metabolic biomarker measured by mass spectrometry. when indicated by abnormal 3omd levels, next generation sequencing (ngs) of the dopa decarboxylase (ddc) gene and variant analysis - providing 100% coverage - will be conducted. eventually, deletion/duplication analysis will then be run if no mutation is identified via ngs. analysis will be performed using centocard(r) - centogene's ce-marked dried blood spot collection kit - that will be directly shipped to physicians. centogene also is in the process of validating ddc enzyme activity from dried blood spot and in doing so aims to offer 3omd, ngs and ddc enzyme activity testing using a single centocard(r). this represents a complete set of assays facilitating the diagnosis of aadc. aadc deficiency is a rare inherited disorder that affects the way signals are passed between certain cells in the nervous system. it causes severe developmental disabilities, the inability to develop any motor strength and control, frequent hospitalizations, and the need for life-long care.
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