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About Supplemental Newborn Screening
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What is a metabolic disease?
A metabolic disease is a disorder caused by a problem with the accumulation of chemicals produced naturally in the body. These diseases are usually serious, some even life-threatening. Others may slow down physical development or cause mental retardation.
Unfortunately most infants with these disorders at first show no obvious sign of disease. The good news is that proper screening at birth may often discover these problems. And with early diagnosis and treatment, some metabolic diseases may be managed effectively.
What disorders are included in the Supplemental Newborn Screening?
The Supplemental Newborn Screening includes screening for fatty acid disorders, organic acid disorders and amino acid disorders. Fatty acid disorders are metabolic deficiencies where the body is unable to break down fatty acids. Organic acid and amino acid disorders affect metabolic pathways and cause toxic chemicals to accumulate in the bloodstream.
Can these disorders be cured?
There are no cures for these diseases. The serious effects of most of the disorders may be reduced and sometimes completely prevented if treatment is started early.
What is the cost of the Supplemental Newborn screening?
The screen cost is $35.00. The screening kit, which contains the card and instructions for use, is provided free of charge for contracted clients. The IMD does not bill patients, Medicare, Medicaid or insurance. Please contact our Billing department at 214-820-4533 with questions about test prices, CPT codes, billing or invoicing.
When would the sample be collected?
The specimen can be collected before the newborn leaves the hospital or in the pediatrician's office. The optimal time to collect the sample is while the baby is in the hospital and at least 24 hours after delivery. Like any screening, the goal is early detection so that early treatment may be initiated.
Can an older child be screened?
Yes, the screening can be performed on children of all ages. However, the Institute does not recommend that the screening be performed on children who have clinical symptoms or who have a family history of inherited metabolic disorders.
Articles of Interest:
Newborn Screening by Tandem Mass Spectrometry: A New Era. Clinical Chemistry, Volume 44, Number 12, pages: 2401-2402.
Tandem Mass Spectrometry in Newborn Screening. Genetics in Medicine. July/August, Volume 2, Number 2, pages: 267-269.
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