How to Order the Expanded Newborn Screening Blood Test

Information for Health Care Providers

What is Newborn Screening?

• Newborns are screened for several metabolic and genetic disorders using a few drops of blood collected via a heelstick.   If diagnosed early, these disorders can often be treated to prevent mental retardation, physical disabilities, and death.
• Although each state performs newborn screening, the disorders included in a state's screening panel vary according to its specific laws.
• Most newborn screening is conducted through state programs.   The program makes sure that a baby with an abnormal screening result receives diagnostic testing and follow-up care.   Finally, the program educates parents and health care providers about newborn screening.

What is the Expanded Newborn Screening Blood Test?

• The expanded newborn screening blood test uses technology such as Tandem Mass Spectrometry to screen babies for over 24 rare metabolic and genetic disorders.   Like standard newborn screening, the expanded newborn screening blood test uses drops of blood from a single heelstick.
• Not all states are able to provide expanded newborn screening at this time.

How Can Babies Get the Expanded Newborn Screening Blood Test?

• First, check with your state newborn screening program to make sure that they are not already doing the expanded screening. The link http://genes-r-us.uthscsa.edu/state_contacts.pdf will give you state program contact information.
• If your state program does not do the expanded newborn screening blood test, contact one of the following four commercial labs which currently perform the test:

Baylor Institute for Metabolic Disease
(800) 422-6436
http://www.baylorhealth.com/medicalspecialties/metabolic/newbornscreening.htm

Mayo Medical Laboratories
(800) 533-1710
http://www.mayoreferenceservices.org/mml/mml-sns-intro.asp

Pediatrix Screening
(866) 463-6436
http://www.pediatrixscreening.com

UCHSC Biochemical Genetics Laboratory
(303) 724-3826
http://www.uchsc.edu/newbornscreening

What Will Happen When I Call the Labs?

• Each lab's expanded newborn screening panel varies slightly.   Therefore, the labs should explain the details of their screening procedures as well as the disorders included in their screening panel.
• The labs will also tell you the cost of their expanded screening and will mail you written information.   You should review all of the information with your patient.

How Will the Baby Be Tested?

• If your patient decides that she would like her baby to receive the expanded newborn screening blood test, you should ask one of the labs for a screening packet.
• It may be helpful for your patient to get this screening packet before she delivers so that she may bring the packet to the hospital with her when she delivers .
• The screening packet should include instructions on how to collect the baby's blood and information for you and your patient.
• The expanded newborn screening blood test is an optional, additional test.   Consequently, your patient's baby will also receive standard newborn screening by your state program, and will be charged for both tests.

Who Will Get the Results of the Baby's Test?

• The results of the baby's expanded newborn screening blood test should go to you, the baby's pediatrician, and to other designated health care providers.   A copy of the results may also be sent directly to your patient.
• Make sure that the lab which tests the baby knows the name, phone number, and address of the appropriate health care providers who should receive the results.
• The baby's pediatrician should follow up on any questionable results.   Your state newborn screening program will not follow up on any expanded newborn screening test results.
• Your state newborn screening program will not automatically get a copy of the baby's screening results.

Disclaimer:   The information provided is not an endorsement of the laboratories listed above.   The information is provided purely as a service for health care providers.