Adrenoleukodystrophy screening
|
Adrenoleukodystrophy Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Adrenoleukodystrophy screening On the Web |
|
American Roentgen Ray Society Images of Adrenoleukodystrophy screening |
|
Risk calculators and risk factors for Adrenoleukodystrophy screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
Adrenoleukodystrophy screening started in state of New York in December, 2013 followed by Connecticut, California, Minnesota and 14 other states. The first step in screening is to take newborn's dried blood spot and analyse it with tandem mass spectrometry for the elevated levels of C26:0-LPC. 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.
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.