Login
Health Professionals Guide to Newborn Screening: Lab Testing and Reporting

Health Professionals Guide to Newborn Screening

Laboratory Testing and Reporting

Specimen Analysis
Specimen analysis begins on the day specimens are received in the newborn screening laboratory. The availability of results is disorder dependent.

  • Specimens with all normal results are generally reported within 48 hours.
  • Abnormal results for galactosemia and CAH are available on the day of specimen receipt.
  • Abnormal results for aminoacidopathies,  thyroid, fatty acid oxidation and organic acidemia disorders are generally available in 24 hours.
  • Hemoglobinopathies and abnormal biotinidase results are generally available in 48 hours.
  • Abnormal cystic fibrosis results are generally available in three to five days.

Reporting Results

NORMAL RESULTS (White paper):

  • Written report to specimen collection institution.
  • Repeat of initial abnormal results: Written report to physician and collection institution.

DEFINITE ABNORMAL (Gold colored paper):

  • Telephone call to baby's physician.
  • Written report to baby's physician and collection institution. 

POSSIBLE ABNORMAL (Blue colored paper):

  • Written report to baby's physician and collection institution.
    • Note: Some possible abnormal thyroid results are also reported by telephone to the baby's physician.

 

NEXT PAGE