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November 21, 2009
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Clinical Issues and Considerations
  Disorders: Description and Sample Screening Methodology

The following Web sites describe disorders that can be detected through newborn screening:



Sample Screening Methodology: New York State


Disorder
Marker Analyte
Method
Verification Test
PKU Phenylalanine MS/MS TLC/BIA
MSUD Leucine MS/MS TLC/BIA
Homocystinuria Methionine MS/MS TLC/BIA
Galactosemia Gal-1-P/galactose Beutler-enzyme Hill-metabolite
Biotinidase Deficiency Biotinidase Wolf-enzyme Wolf-enzyme
Sickle Cell Disease Hemoglobin Alkaline Electro-phoresis Acid Electro-phoresis/ Isoelectric Focusing
Hypothyroidism Thyroxine ELISA DNA
Cystic Fibrosis Immunoreactive trypsinogen ELISA DNA
CAH 17-hydroxy- progesterone ELISA DNA
HIV HIV-antibodies ELISA Western Blot
MCADD Octanoyl-carnitine MS/MS DNA


Other Useful Links


The information contained in this section does not constitute the endorsement of any specific state policy or proceedure by the March of Dimes. Content is based on the New York State Department of Health manual “Newborn Screening in New York State: A Guide for Health Professionals,” provided by the Newborn Screening Program, Wadsworth Center, New York State Department of Health. The material has been modified for a national audience, and additional information has been added by the March of Dimes.

 
printable format     email page     
Newborn Screening
  March of Dimes Newborn Screening Recommendations
 
  Clinical Issues and Considerations
 
    - Introduction and History
 
    - Collection of Screening Specimens
 
    - Disorders: Description and Sample Screening Methodology
 
    - Results and Follow-up
 
    - Parent Education
 
    - Professional Education
 
    - Frequently Asked Questions
 
    - Glossary of Newborn Screening Acronyms and Abbreviations
 
  What Providers Can Do
 
  Resources for Families
 
    - March of Dimes Information for Families
 
    - Ask the March of Dimes Now
 
    - Other Resources
 
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