CLSI NBS09

Newborn Screening for X-Linked Adrenoleukodystrophy, 1st Edition

This guideline discusses the detection of X-linked adrenoleukodystrophy by population-based newborn screening using dried blood spot specimens to measure C26:0-lysophosphatidylcholine.

This edition of the document was corrected in September 2021. Read the full correction notice here, and learn more about our corrections process here.

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Chairholder: Joseph Orsini, PhD

Date of Publication: August 6, 2021

Order Code PDF: CLSI NBS09Ed1E
ISBN Number: 978-1-68440-113-0

Order Code Print: CLSI NBS09Ed1
ISBN Number: 978-1-68440-112-3

Edition: First

Pages: 100

CLSI NBS09 Abstract

Clinical and Laboratory Standards Institute guideline NBS09—Newborn Screening for X-Linked Adrenoleukodystrophy describes the currently available laboratory tests used to measure C26:0-lysophosphatidylcholine in dried blood spot (DBS) specimens. X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder not evident at birth. ALD is caused by a variant in ABCD1 resulting in defective ALD protein and impairment of peroxisomal oxidation of very long–chain fatty acids. Early detection is critical, because untreated male children with ALD have a 50% chance of developing adrenal insufficiency before the age of 10 and a 30% to 35% chance of developing cerebral disease, which has occurred as early as 2.75 years of age. This guideline includes a laboratory operations overview, with details about physical layout, instrumentation, protocols, automated methodologies, and potential for future expansion. Steps for implementing ALD newborn DBS screening, including validating the laboratory test, conducting pilot studies, and transitioning to routine screening, are discussed.

CLSI NBS09

Newborn Screening for X-Linked Adrenoleukodystrophy, 1st Edition

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CLSI NBS09 Abstract