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NEONATAL SCREENING

Neonatal screening tests are mandated by law for the following disorders:

  • adrenal hyperplasia
  • biotinidase deficiency
  • galactosernia
  • hypothyroidism
  • phenylketonuria (PKU)
  • sickle cell anemia

Procedure
All test specimens must be collected on the State of Illinois Neonatal Screening Tests Form, which has designated blood collection areas. These forms are available from Laboratory Support Services (LSS), 476 Jelke. All patient information requested on the form must be entered prior to submitting the form to the State Lab.

Blood collection and specimen transport services are available through LSS. Specimens must be submitted to the State Lab no later than 72 hours after collection.

Specimens are collected by the blood drawing team upon a written physician's order in the patient's medical record.

Specimens are collected no earlier than 48 hours after birth from those infants not discharged before 48 hours of age.

Infants who leave the hospital before they are at least 48 hours of age must have a blood specimen drawn for testing before discharge. A second blood specimen for PKU testing must be obtained on such infants before the third week of life by the attending physician or her/his designee.

Specimens from infants requiring parental feeding or from premature infants should be obtained after their condition has stabilized. It is suggested that such infants be tested initially on or near the seventh day of life.



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