CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) Clinical Genetics Centre Nijmegen Radboud university medical center 830 Translational Metabolic Laboratory Geert Grooteplein 10, 6525 GA Nijmegen tel: 024 – 3614567 fax: 024 – 3668754 www.radboudumc.nl/labgk; www.nijmegencdg.nl Unit Glycosylation and Lysosomal Disorders Dr. D.J. Lefeber [email protected] Patient Referring physician First name*:……………………………………………………… Name:……………………………………………………………. Middle name*:…………………………………………………… Hospital:…………………………………………………………. Family name*:…………………………………………………… Department:…………………………………………………….. Date of Birth*:……………………………………………………. Address:…………………………………………………………. Gender*: M /F Phone:…………………………………………………………… MRN Number:……………………………………………………. FAX:……………………………………………………………… Patient is deceased, date…………………………................................... E-mail:…………………………………………………………… Patient does not give permission for long term storage of samples for the purpose of additional diagnostic or scientific research of the sample(s) at a later state. Send report to: Referring physician other:………………………………………………… Billing address:…………………………….............................. …………………………………………………………………….  These items are required Requested investigations: CDG Screening: CDG subtype determination: Transferrin isofocusing Not yet done / Type I / Type II Enzyme analysis (PMM, PMI, PGM) Apo CIII isofocusing N-glycan mass spectrometry Exome sequencing Specimen: skin / fibroblasts To be filled out by lab employee: plasma/serum Date collected: DNA Other: . . Ontvangst datum: tijdstip: paraaf: Opmerkingen: Conditions and shipment: Please enquire about conditions for shipment, depending on material Clinical information: Please provide the main clinical characteristics or a case description via email. ................................................................................................................................................................................................... ………………………………………………………………….…………………………………………………………………………. 1 of 1 Accredited by CCKL/RvA December 2014