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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.
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