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1ST Workshop within the frame of the HURO project SCREENGEN 27-29 June 2011

NEWBORN SCREENING  -  PHENYLKETONURIA, GALACTOSEMIA, HYPOTHYREOSIS AND CONGENITAL ADRENAL HYPERPLASIA

 

 

1ST Workshop within the frame of the HURO project SCREENGEN

                      

27-29 June 2011

 

 

On the first day of workshop members of LP held presentations on the disorders planned to be included in newborn screening by PP1 and PP2. First, the etiology, clinical symptomes and therapy of the disorders were presented. In the second part, the laboratory techniques for screeninfg and follow up were discussed. One of the presentation dealt with general problems of newborn screening. The presentations were followed by discussions. On the second and third day one colleagues from both PP1 and PP2 remained for  a  two-day long practical training. They got acquainted with the techniques and instruments used in the screening laboratory of LP and had opportunity to practice the methods

TimeProgram
10:00 - 16:00

Monday, 27.06.2011

 

Place: Library, Dept. Pediatrics, University of Szeged, Koranyi fasor 14-15, Szeged, Hungary

 

10.00 Opening

Prof. Dr. Sandor Turi

10.15-10.55. Phenylketonuria and other hyperphenylalaninemias

            Dr. Gabor Racz

10.55.-11.25. Screening for phenylketonuria - laboratory methods

            Dr. Peter Monostori

Discussion

Break

11.45.12.15. Galactosemia

            Dr. Gabor Racz

12.15.-12.35. Screening for galactosemia - laboratory methods

            Dr. Melinda Rozsa

Discussion

Break 

14.00-14.40. Hypothyreosis and congenital adrenal hyperplasia

            Dr. Balazs Gellen

14.40-15.10 Screening for hypothyreosis and CAH, second-tier testing  – laboratory methods

            Dr. Peter Monostori

Discussion

Break

15.30.-16.00. Newborn screening (sample collection, data evaluation, reporting)

            Dr. Eszter Karg

 

 

Tuesday and Wednesday, 28.-29.06.2011

 

Place: Screening Laboratory, Dept. Pediatrics, University of Szeged

 

8.00-14.00. Introduction to the ELISA methods (PKU, galactosemia, hypothyreosis) and the

MS/MS analysis (laboratory practice in the Metabolic Screening Lab, Dept. Pediatrics,

Univ. Szeged, for 2 colleagues)