Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

Author(s): De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH

Publication: Clin Chem, 2009, Vol. 55, Page 158-64

PubMed ID: 18988750 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of storage temperature and duration on lysosomal enzyme levels in DBS of unprocessed cord blood.

   Summary of Findings:

   Storage of DBS at -20 or 4 degrees C for up to 187 days had no effects on the levels of the lysosomal enzymes acid alpha-glucocerebrosidase (ABG), GLA, lysosomal acid alpha-glucosidase (GAA), galactocerebroside alpha-galactosidase (GALC) or acid sphingomyelinase (ASM). When DBS, were stored at 25 degrees C, GLA levels decreased by 42% during storage, but all other enzyme levels were unchanged. DBS stored at 37 or 45 degrees C had decreased levels of all enzymes examined.

   Biospecimens

   • Bodily Fluid - Cord Blood

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   Protein	LC-MS or LC-MS/MS

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Storage	Storage temperature	-20 degrees C 4 degrees C 25 degrees C 37 degrees C 45 degrees C
   Storage	Storage duration	0-187 days

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