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 Laboratory
Tests: Metabolic
and Hemoglobinopathy Screening
DC law requires
hospitals and birth centers to screen all newborns (with parental
consent) for certain metabolic and hemoglobin disorders. Universal
screening and early intervention help prevent life-threatening complications
and serious chronic consequences of these diseases, including mental
retardation and developmental disabilities.
Universal
Newborn
Screening
The DC Newborn
Metabolic Screening Program screens all District newborns for these
disorders:
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- Sickle
cell disease (see next page)
- G-6-PD
deficiency
- Congenital
hypothyroidism
- Galactosemia
- Phenylketonuria
- Maple
syrup urine disease
- Homocystinuria
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Initial Screening
and Test Results
The DC Department
of Health administers the Newborn Screening Program and notifies
providers of abnormal test results, provides educational and referral
information, monitors results of repeat tests, and tracks those
who require treatment.
Neo
Gen Screening, Inc., contracts with the DC
Government to analyze blood samples from all District newborns
and to provide test results free of charge. Providers may register
to
gain access to Neo Gen's automated systems, but must obtain written
parental consent before accessing individual test results.
Follow-up
Screening: The PCP's Role
If the initial
blood sample was obtained less than 24 hours after birth or if the
sample was unacceptable, the PCP needs to obtain a second blood
sample at 1 week of age.
If initial screening
results indicate abnormalities, the PCP must:
- Obtain a
repeat blood test
- Provide appropriate
referrals to pediatric specialists (endocrinology, hematology,
genetics)
- Document
all follow-up screening and services in the child's medical record
Resources
DC
Newborn Metabolic Screening Program
825 North Capitol St., NE
Washington DC 20002
Phone: (202) 442-9344 or 442-5925
Neo
Gen Screening, Inc.
110 Roessler Rd., Suite 200
Pittsburgh, PA 15220
Phone (412) 341-8658; fax (412) 341-8926
E-mail: Registration@neogenscreening.com
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