State of Illinois Rod R. Blagojevich, Governor Department of Public Health Eric E. Whitaker, M.D., M.P.H., Director Newborn Screening Practitioner’s Manual June 2007 Table…

1. In Born Error of Metabolism(IEM)(congenital metabolic diseases)A Guide to Diagnosis 2. HHoowweevveerr,, ffoorr mmee……Copyright Roche Diagnostics GmbH, 1993, used with…

Slide 1 An Introduction to Indiana’s Newborn Screening Program Maternal and Children’s Special Health Care Services Genomics and Newborn Screening Program Slide 2 Why…

Slide 1 The Genetics Education Project Prepared by: June C. Carroll, MD, CCFP, FCFP Sydney G. Frankfort Chair in Family Medicine Associate Professor, Department of Family…

Slide 1 Newborn Screening in Washington Cristine M Trahms, MS, RD, FADA Center on Human Development and Disability Division of Genetics and Development Department of Pediatrics…

Slide 1 Amino acid disorders Slide 2 Slide 3 Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th chromosome): more than 400 mutations Incidence: Average…

A Practical Approach to The Diagnosis and Evaluation of Seizures Carol Leicher MD Connecticut Childrenâs Medical Center University of Connecticut School of Medicine Three…

1.MEDICAL RESEARCH INSTITUTE– ALEXANDRIA UNIVERSITY15 th conference (3 rd international)ADVANCES IN MEDICAL RESEARCH` From molecular medicine-to clinical application`Mass…

NEWBORN SCREENING COLLECTION GUIDELINES Alabama Department of Public Health • Bureau of Clinical Laboratories • Newborn Screening Division 8140 AUM Drive, Zip 36117-7001,

Your Newborn Baby's Screening TestWhat conditions does the screening detect? There are 25 conditions covered by screening, the most commonly detected are: * Congenital