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Centogene to Provide Diagnostic Testing Services for PTC Therapeutics Gene Therapy Program

NEW YORK — Centogene said on Monday that it has signed an agreement to provide diagnostic testing services for aromatic L-amino acid decarboxylase (AADC) deficiency to PTC Therapeutics, which is developing a treatment for the rare disease.

The disease is caused by mutations in the dopa decarboxylase (DDC) gene, resulting in the body's failure to synthesize the AADC enzyme, which is required for the production of the neurotransmitters dopamine and serotonin. While there is no approved treatment for AADC deficiency, PTC is developing a gene therapy for the disease.

Under the deal with PTC, Rostock, Germany-based Centogene said that it will use its CentoCard dried blood spot collection kit to collect patient samples, which it will analyze for the AADC deficiency biomarker 3-O-methyldopa (3OMD) via mass spectrometry. In cases where samples test positive for abnormal 3OMD levels, next-generation sequencing of DDC and variant analysis will be conducted. Deletion/duplication analysis will be run if no mutation is identified via NGS. 

Additional terms were not disclosed.

Centogene noted that it is also in the process of validating DDC enzyme activity from dried blood spots in order to offer 3OMD, NGS and DDC enzyme activity testing using a single CentoCard. 

"We aim to provide physicians with a consensus diagnosis that includes a biomarker and genetic validation from a single source," Centogene CEO Arndt Rolfs said in a statement.

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