Fabry disease

Diagnosis and Testing

Is there newborn screening for Fabry disease?

In the United States, there is newborn screening for Fabry disease in a few states. These states do testing for enzyme levels of alpha-galactosidase A, or alpha-Gal, on newborn dried blood spots. Currently Missouri, Illinois, Oregon, Tennessee, and Maryland screen all babies born in the state for Fabry disease. Pennsylvania and New York offer the option for Fabry disease testing on the newborn screening (in selected areas of New York City). New Jersey and New Mexico will soon offer newborn screening for Fabry disease. Not all states test for Fabry disease as it has not yet be added to the Recommended Uniform Screening Panel (RUSP) that many states used to decide which new tests to begin adding to their newborn testing. A current listing of states performing newborn screening for Fabry disease can be found on the NewSTEPs website in the data visualizations section.

It is important to remember that a "positive" newborn screen for Fabry disease does not mean that a child has the condition. A false positive can occur for many different reasons and there are important follow up tests that need done to determine if a child actually has Fabry disease.

For more information about newborn screening for Fabry Disease, please refer to the Baby's First Test online resource.

In order to find a Fabry disease specialist who can provide more information on newborn screening for Fabry disease, please refer to the Fabry specialist finder online resource.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/diagnosis-testing/568 • DATE UPDATED: 2019-12-12

References

Hopkins, P.V., Campbell, C., Klug, T., Rogers, S., Raburn-Miller, J., and Kiesling, J. (2015). Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri. The Journal of Pediatrics, 166, 172-177.

Kiesling, J. L. (2014, October 28). Missouri's Full Population Pilot Screening for Fabry Disease and the Implications for Families. Retrieved from http://www.aphl.org/conferences/proceedings/Documents/2014/NBS/29Kiesling.pdf.

Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.

Baby's First Test - Fabry. (n.d.). Retrieved from http://www.babysfirsttest.org/newborn-screening/conditions/fabry.

Data Visualization, Newborn Screening Status for All Disorders, NewSTEPs, https://www.newsteps.org/resources/newborn-screening-status-all-disorders Accessed 12DEC19.

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