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Test Code Neo Scrn Neonatal Screen

Useful For

Every infant born in Missouri is required by law to be tested for certain metabolic and genetic disorders. Early detection and management of these disorders prevents mental retardation and/or other catastrophic health problems in affected children. The mission of the Newborn Screening Program is to eliminate or reduce the mortality, morbidity, and disabilities that results from the disorders included in the screening panel. Newborn screening consists of both metabolic screening and hearing screening.

Patient Preparation

Timing of screening: The Missouri rule (19 CSR 25 – 36.010) (3) (A) states a specimen shall be taken from all infants before being discharged from the hospital or birthing facility regardless of age. A specimen collected between 24 and 48 hours of life is considered optimum for newborn screening. A second, or repeat, specimen shall be required within 14 days of life if the initial specimen was collected before 24 hours of life.

Collection Method

Procedure for blood collection:

i. Positioning the infant with feet lower than the heart will help to increase
blood flow.

ii. Warm the heel to increase blood flow to the area by covering the
puncture site for 3 to 5 minutes with a heel warmer or a warm, moist
towel that has been warmed with tap water at a temperature of not
more than 42 degrees centigrade.

iii. Clean the puncture site with a sterile alcohol pad. Wipe dry with sterile
gauze. (Alcohol may cause hemolysis.)Use a sterile disposable lancet with a 2.5 mm, or less, tip or an automatic lancet to perform a swift clean puncture. Wipe away the first drop of blood with dry sterile gauze.

v. Allow a second large drop of blood to form.


1. Gently touch the filter paper against a large drop of blood and, in one step, allow a sufficient quantity of blood to soak through to completely fill a preprinted circle on the filter paper.

2. Examine both sides of the filter paper to make sure that the blood penetrated and saturated the paper. Apply blood to one side of the filter paper only, allowing full saturation of each circle before
proceeding to the next circle.

3. Fill all 5-circle areas. If there are problems obtaining an adequate quantity of blood, it is better to fill 4 circles completely than to fill 5 circles inadequately. Do not layer successive small drops of
blood to the same circle as this can result in caking.

Preferred Specimen

Initial Screen (the red form) or Repeat Screen (the green form)

Reference or Target Ranges

The Newborn Screening Laboratory currently screens for the following:

Phenylketonuria (see Amino Acid Disorders)

Primary Congenital Hypothyroidism

Galactosemia

Hemoglobinopathies

Congenital Adrenal Hyperplasia

Fatty Acid Disorders

Organic Acid Disorders

Amino Acid Disorders

Cystic Fibrosis

Biotinidase Deficiency

Lysosomal Storage Disorders

Severe Combined Immunodeficiency

Spinal Muscular Atrophy

 

The Missouri Newborn Screening Laboratory’s goal is to identify infants at risk and in need of
diagnostic testing for the above disorders. A normal screening result does NOT rule out the
possibility of an underlying metabolic/genetic disease.

Reason for Rejection

Antiseptic solutions; powders, lotions or other materials can adversely affect the testing process.

Examples of poor quality specimens

Additional Information / Important Notes

The blood collection form (Boxes 1-19) must be completely filled out using a blue or black ballpoint pen.

Additional infomation may be found on the Missouri Department of Health and Senior Services website.

Performance Information

1 to 3 working days after receipt of specimen