The Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, situated at Istituto Giannina Gaslini, is part of the Diagnostic and Research Department.
The laboratory was set up in 1971 providing diagnostic service for lysosomal diseases and rare white matter disorders.
From 1976 the biobanking started by cryopreservation of cell lines derived from patients affected by rare genetic diseases. During this operational time the Biobank has constantly provided essential services to the scientific community by establishing, analysing, maintaining, and distributing cell cultures and DNA samples.
The “Cell line and DNA Biobank from patients affected by Genetic Diseases” is supported by Telethon Foundation grants.
To date, the laboratory is engaged in both diagnostic and research activities.