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What disorders are screened for in Washington?

Currently Washington screens for ten disorders: biotinidase deficiency, congenital adrenal hyperplasia (CAH), congenital hypothyroidism (CH),  cystic fibrosis (CF), galactosemia, hemoglobinopathies (HB), homocystinuria, Maple Syrup Urine Disease (MSUD),  Medium Chain Acyl co-A Dehydrogenase Deficiency (MCADD) and phenylketonuria (PKU). This screening is mandated by statute (Chapter 70.83 RCW) with regulations adopted by the State Board of Health (Chapter 246-650 WAC). Although not mandated, a routine second newborn screen is recommended for all infants between 7 and 14 days of age as a standard of medical practice to optimize disease detection for all infants. Use the links below to find out more about each disorder.


Biotinidase Deficiency

General Overviews        Clinical Description          Related Links        Biotinidase Deficiency Fact Sheet        Reports & Publications
--Profound Biotinidase Deficiency
--Partial Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)   

General Overview          Clinical Description          Related Links        CAH Fact Sheet        Reports & Publications

Congenital Hypothyroidism (CH)  

General Overview          Clinical Description          Related Links        CH Fact Sheet        Reports & Publications

Cystic Fibrosis (CF) 

General Overview        Clinical Description           Related Links       CF Fact Sheet        Reports & Publications

Galactosemia

General Overviews        Clinical Description          Related Links        Galactosemia Fact Sheet        Reports & Publications
--Classic Galactosemia
--Mild Galactosemia

Hemoglobinopathies (HB)

General Overview          Clinical Description          Related Links        Sickle Cell Fact Sheet        Reports & Publications

Homocystinuria

General Overview         Clinical Description          Related Links      Homocystinuria Fact Sheet        Reports & Publications

Maple Syrup Urine Disease (MSUD)

General Overview          Clinical Description          Related Links       MSUD Fact Sheet        Reports & Publications

Medium-Chain Acyl co-A Dehyrdogenase (MCAD) Deficiency

General Overview          Clinical Description          Related Links       MCAD  Fact Sheet        Reports & Publications

Phenylketonuria (PKU)

General Overviews        Clinical Description          Related Links        PKU Fact Sheet        Reports & Publications
--PKU
 --Mild PKU


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Washington State Department of Health
Newborn Screening Program
1610 NE 150th Street
Shoreline, Washington, 98155

Last Update : 07/17/2007 07:02 AM
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