The MSPHL performs laboratory screening for mandated genetic / metabolic conditions on all infants born in Missouri so that early detection and intervention promotes healthy outcomes for those infants with these conditions.

The Newborn Screening Laboratory currently screens for the following:

Conditions

Screened Since

Phenylketonuria (see Amino Acid Disorders)

1967

Primary Congenital Hypothyroidism

1979

Galactosemia

1985

Hemoglobinopathies

1989

Congenital Adrenal Hyperplasia

2002

Fatty Acid Disorders

2005

Organic Acid Disorders

2005

Amino Acid Disorders

2005

Cystic Fibrosis

2007

Biotinidase Deficiency

2008

Lysosomal Storage Disorders

2015

Severe Combined Immunodeficiency

2017