Adrenoleukodystrophy screening: Difference between revisions
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==Screening== | ==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. <ref name="pmid31074578">{{cite journal| author=Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A | display-authors=etal| title=A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. | journal=Am J Med Genet A | year= 2019 | volume= 179 | issue= 7 | pages= 1205-1213 | pmid=31074578 | doi=10.1002/ajmg.a.61171 | pmc=6619352 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31074578 }} </ref> | |||
===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.<ref name="pmid27337030">{{cite journal| author=Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E | display-authors=etal| title=Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. | journal=Genet Med | year= 2017 | volume= 19 | issue= 1 | pages= 121-126 | pmid=27337030 | doi=10.1038/gim.2016.68 | pmc=5182180 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27337030 }} </ref> | |||
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==References== | ==References== | ||
Revision as of 12:16, 14 June 2020
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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.