Bio Spec

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Overview

Bio Spec Overview

Ignite Creation Date: 2025-12-24 @ 7:58 PM
Last Modification Date: 2025-12-24 @ 7:58 PM
Retention: SAMPLES_WITH_DNA
Description: For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10ml blood will be taken from the patient via using a dried blood spot filter card. To proof the correct NPC diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of NPC1 and/or NPC2 will be done. The analyses will be done at the:

Centogene AG Am Strande 7 18055 Rostock Germany
Section: For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10ml blood will be taken from the patient via using a dried blood spot filter card. To proof the correct NPC diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of NPC1 and/or NPC2 will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany