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What is CDGS?
CDGS, Carbohydrate Deficient Glycoprotein Syndrome is an inherited metabolic disease. It is also called Congenital Disorders of Glycosylation. The best place to read about CDGS on the net is :cdgs.com. There you can read about the symptoms, nomenclature, causes, diagnosis, research, and get support for CDGS.
What is this site?
This site is primarily to inform anyone interested that CDGS diagnostic testing on bloodspots is available from our laboratory. What this means is that samples of suspected CDGS patients may be sent on a Guthrie paper (standard for PKU testing in infants) for analysis by isoelectric focussing. If initial analysis shows pathological isoforms of transferrin, a serum sample will be requested for quantitative analysis. As noted on The advantage of our laboratory is the routine usage of samples sent as bloodspots. Shipping serum is often costly. The Guthrie paper need only be prepared as for PKU (fill each of the four dots with blood from a finger or heel prick), placed in a biohazard pouch, put in an envelope, and mailed to our laboratory:
cdgs.com., isoelectric focussing is easy and quick, but rather insensitive regarding differentiating between the types of CDG. Enzyme activity tests and possibly genetic tests if available allow the final diagnosis of the CDG type.
The sample need not be sent overnight, nor registered. The samples are stable for a reasonable amount of time (Stibler et. al) without refrigeration, an important factor in sample delivery in the Mediterranean area!
Our price for the IEF assay is \\$75 US. Please include a check or money order to For more information, please feel free to write us at:
The Research Fund, Sieff Govt. Hospital
with the sample. Samples without financial remission will not receive the results of the test until payment is received.
Head of Pediatrics Department and Genetic Testing unit
Tel. +972-6-682-8906 (office in Pediatrics)
Fax:
Research Laboratories Manager
Tel.: +972-6-682-8878
Fax: +972-6-693-753
Diagnostic and other medical resources available in Scandanavia can be found at The CDG Society 
.
Who are we?
The Mediterranean CDGS Diagnosis Laboratory is situated in the Medical Research Wing of the Rebecca Sieff Government Hospital in Safed, Israel. The hospital numbers some 355 beds and over 30 medical units, services and departments. The research wing was opened officially in 1995, and includes the Vera and Henry Mottek CellScan for Early Cancer Detection, the Leon and Freda Schaller Lipid Research Laboratory, the Magdelena Lyons Molecular Biology Laboratory, the Innovatech research and development laboratory, and a Psychoneuroimmunology laboratory. Backgrounds by Windyweb Design
Isoelectric Focussing gel 
A,B,C,D normal controls. Note transferrin polymorphisms in all isoforms.
E is CDGS positive patient (thanks to Vreken and Wanders lab in Amsterdam)
F is CSF (cerebral spinal fluid), a control for a-sialo transferrin.
