Important Note

The Missouri State Public Health Laboratory (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. It is a state law that each infant born in the state of Missouri is screened for metabolic and genetic disorders.

The Newborn Screening Laboratory currently screens for the following:

Biotinidase Deficiency (BIOT)

Classic Galactosemia (GALT)

Congenital Adrenal Hyperplasia (CAH)

Primary Congenital Hypothyroidism (CH)

Cystic Fibrosis (CF)

Severe Combined Immunodeficiency (SCID)

Spinal Muscular Atrophy (SMA)

Amino Acid Disorders

Fatty Acid Oxidation Disorders

Organic Acid Disorders

Hemoglobinopathies

Lysosomal Storage Disorders

Results that require immediate attention such as high risk results, are phoned and faxed to both the hospital and the physician by the Missouri State Public Health Laboratory. The Missouri State Public Health Laboratory contacts a newborn screening follow up center immediately for appropriate follow up testing, consultation, diagnosis, and treatment. All specimens received at the newborn screening laboratory are examined for specimen acceptability. When the newborn screening laboratory determines a specimen to be poor quality, a same-day fax report is sent to the collecting facility and physician of record requesting a repeat newborn screen immediately