CLSI Publishes New Guideline NBS09—Newborn Screening for X-Linked Adrenoleukodystrophy
Malvern, PA—The Clinical and Laboratory Standards Institute (CLSI) has published the first edition of NBS09— Newborn Screening for X-Linked Adrenoleukodystrophy. NBS09 describes the currently available laboratory tests used to measure C26:0-lysophosphatidylcholine in dried blood spot (DBS) specimens. Early detection of adrenoleukodystrophy (ALD) 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.
Analytical methods for detection of x-linked adrenoleukodystrophy are discussed, including:
- An overview of available tandem mass-spectrometry methods.
- Sample extraction and biomarkers.
- Flow injection analysis.
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