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Newborn Screening Home

Newborn Screening is a special blood test done on each Utah baby. It is specifically designed to reduce the occurrence of diseases or conditions that alter health and quality of life (morbidity) and increase the risk of death (mortality) due to certain metabolic, endocrine, and hematological disorders by identifying the disorder prior to the onset of symptoms.

This allows treatment to begin before clinical symptoms of morbidity (i.e. permanent brain damage, growth retardation, sepsis, or severe anemia) or death can occur in the newborn.

Utah collects two newborn screening specimens which test for 39 disorders. The first screen is usually done between 24 hours and 5 days of life, or right before discharge from the hospital. The second screen is done between 7 and 28 days of age, usually at the two week well-child check with the baby's pediatrician. Identifying and treating infants with these disorders early can help ensure a long, healthy life, so it is important to get these tests done correctly and on time.

New Disorder Added July 1 2015

Guanidinoacetate Methyltransferase (GAMT)

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The GAMT enzyme is lacking and as a result, creatine does not reach organs or the brain. Insufficient levels of GAMT in the brain lead to developmental delay, autism-like behavior, and  seizures. Treatment is highly effective and inexpensive. No fee increase will occur and no additional blood is necessary for testing. GAMT screening will be part of tandem mass spectrometry which is currently utilized to test other acylcarnitine and amino acid disorders.

 

Rule Change - First Screen Collected at 24 to 48 hours

Rule Changes Effective June 1, 2015

Change in Time of Collection

Rule change targets timing of collection of first newborn screen:

  • With the new rule change first newborn screening specimens are required to be collected at 24-48 hours. Previously this time was 48 hours– 5 days.
  • 1st screens are validated only on specimens collected between 24-48 hours.
  • Samples should be sent to the State Laboratory for testing within 24 hours of collection. Specimens should be sent daily.
  • There are no changes to the sick/preterm newborn screening collection protocol.

http://www.rules.utah.gov/publicat/code/r398/r398-001.htm

 

Newsletters

 

2-Part Kit Order Form (for orders of <5)

In order to serve our Utah population better the Newborn Screening Program is happy to announce 2-part kit cards may now be ordered individually and privately.

Please click below to download the order form.

2-Part Kit Order Form