Health Professionals Guide to Newborn Screening

The Test Panel

The newborn screening panel includes tests for the following 47 disorders:

• Argininosuccinic Acidemia (ASA)	• Hemoglobin Variants
• Biotinidase Deficiency	• Homocystinuria
• Congenital Adrenal Hyperplasia	• Hypermethioninemia
• Congenital Hypothyroidism	• Hyperphenyalaninemia
• Citrullinemia (Types I & II)	• Maple Syrup Urine Disease
• Cystic Fibrosis	• Organic Acidemias (14)
• Fatty Acid Oxidation Disorders (12)	• Phenylketonuria (Includes Biopterin Cofactor defects of regeneration and biosynthesis)
• Galactosemia	• Severe Combined Immune Deficiency
• Hemoglobin S-Beta Thallassemia	• Sickle Cell Disease
• Hemoglobin S/C Disease	• Tyrosinemia (Types I,II, & III)

Newborn hearing screening is done in the hospital before discharge.

Wisconsin Newborn Screening Timelime

1965	Phenylketonuria
1978	Hypothyroidism, Galactosemia and Maple Syrup Urine Disease centralized at WSLH
1983	Homocystinuria (Pilot Only)
1985	Cystic Fibrosis (Research Only)
1988	Hemoglobinopathies
1989	Blinded CDC HIV sero-prevalence study
1991	Biotinidase Deficiency
1992	Statute change allows DHSS to specify test panel by rule; Maple Syrup Urine Disease and Homocystinuria testing discontinued
1993	Congenital Adrenal Hyperplasia
1994	Cystic Fibrosis
1995	Blinded CDC HIV sero-prevalence study discontinued
2000	Fatty Acid Oxidation and Organic Acidemia
2002	Hearing Screening
2003	Aminoacidopathy Addition (Maple Syrup Urine Disease, Homocystinuria, Tyrosinemia, Argininosuccinic Acidemia, Citrullinemia)
2008	Severe Combined Immune Deficiency

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