Adrenoleukodystrophy screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Screening
Introduction
- Before the start of newborn screening for adrenoleukodystrophy only males were diagnosed based on their positive family history for the disease or during the initial work-up for primary adrenal insufficiency. New York became the first state to start the newborn screening for X-ALD in Dec, 2013 followed by Connecticut, California, Minnesota and 14 other states. [1]
Criteria For a Screening test
- Early diagnosis has to be of direct benefit to the newborn. Health gains must be significant, accomplished by early intervention in serious diseases with a known natural course.
- There has to be a high quality screening test. The assay must be highly specific and sensitive, meaning it has a very low rate of both false positive and false negative outcomes.
Principles of Adrenoleukodystrophy Screening
- The first step is tandem mass spectrometry for C26:0-LPC analysis. Samples with a high concentration of C26:0-LPC are then tested in the second step with a more sensitive but time consuming test, using High Performance Liquid Chromatography – MS / MS. The third step is the sequencing of the ABCD1 gene in those samples which still shows elevated C26:0-LPC.[2]
| Adrenoleukodystrophy Screening | |||||||||||||||||||||||||||||||||||
| Newborn Bloodspot | |||||||||||||||||||||||||||||||||||
| Tandem mass spectrometry for C26:0-LPC (MS/MS) | |||||||||||||||||||||||||||||||||||
| High Performance Liquid Chromatography–MS/MS for C26:0-LPC | |||||||||||||||||||||||||||||||||||
| ABCD1 gene sequencing | |||||||||||||||||||||||||||||||||||
References
- ↑ Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A; et al. (2019). "A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy". Am J Med Genet A. 179 (7): 1205–1213. doi:10.1002/ajmg.a.61171. PMC 6619352 Check
|pmc=value (help). PMID 31074578. - ↑ Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E; et al. (2017). "Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation". Genet Med. 19 (1): 121–126. doi:10.1038/gim.2016.68. PMC 5182180. PMID 27337030.