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Supplemental Newborn Screening
Information for Physicians and Their Staff
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Follow-up Testing: An Important Second Step
Supplemental Newborn Screening is a tool, utilized by healthcare providers to assist them in detecting the possible existence of a number of inherited metabolic diseases. Just like any screening test, when abnormal, other follow-up tests are needed.
When follow-up testing is needed for an abnormal supplemental newborn screening result, the Institute of Metabolic Disease (IMD) has expertise to recommend and/or perform the follow-up testing. Our professional staff can recommend testing that is efficient yet comprehensive.
Our facility offers:
• DNA analysis
• Quantitative Tissue Culture testing
• Quantitative Plasma Amino Acids
• Quantitative Acylcarnitine Profiles
• Quantitative Urine Organic Acids
• Quantitative Total Homocysteine
For the majority of our follow-up testing, we provide numerical results with age-related reference ranges and interpretations of those results when appropriate. View a complete list of clinical tests.
In some cases, a probable indication of a specific metabolic disease may be apparent from the abnormal supplemental newborn screening results. This enables the IMD to communicate vital information to the physician regarding follow-up testing and possible treatment. Physicians can call with questions about test results and discuss possible management strategies with the Institute's professional team. Through their extensive contacts in the field of inherited metabolic disease, the Institute's professional team can provide information on other resources in your area.
Supplemental Newborn Screening is a screen. The IMD does not recommend the screening for symptomatic patients or for patients with a family history of inherited metabolic disease. Should a patient fall into one of these two categories, please contact us at 214-820-4533.
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