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

Abstract:

BACKGROUND:Lysosomal storage disorders (LSDs) comprise more than 40 genetic diseases that result in the accumulation of products that would normally be degraded by lysosomal enzymes. A tandem mass spectrometry (MS/MS)-based method is available for newborn screening for 5 LSDs, and many laboratories are initiating pilot studies to evaluate the incorporation of this method into their screening panels. We developed and evaluated dried blood spot (DBS) QC materials for LSDs and used the MS/MS method to investigate their suitability for LSD QC monitoring. METHODS:We incubated 3.2-mm punches from DBS controls for 20-24 h with assay cocktails containing substrate and internal standard. Using MS/MS, we quantified the resulting product and internal standard. Samples were run in triplicate for 3 consecutive days, and results were reported as product-to-internal standard ratios and enzyme activity units (micromol/L/h). RESULTS:Enzyme activity interday imprecision (CV) for the high, medium, and low series were 3.4%-14.3% for galactocerebroside alpha-galactosidase, 6.8%-24.6% for acid alpha-galactosidase A, 7.36%-22.1% for acid sphingomyelinase, 6.2%-26.2% for acid alpha-glucocerebrosidase, and 7.0%-24.8% for lysosomal acid alpha-glucosidase (n = 9). In addition, DBS stored at -20 degrees and 4 degrees C showed minimal enzyme activity loss over a 187-d period. DBS stored at 37 degrees and 45 degrees C had lower activity values over the 187-day evaluation time. CONCLUSIONS:Suitable QC materials for newborn screening of LSDs were developed for laboratories performing DBS LSD screening. Good material linearity was observed, with goodness-of-fit values of 0.953 and higher. The QC materials may be used by screening laboratories that perform LSD analysis by MS and/or more conventional fluorescence-based screening methods.

journal_name

Clin Chem

journal_title

Clinical chemistry

authors

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

doi

10.1373/clinchem.2008.111864

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

158-64

issue

1

eissn

0009-9147

issn

1530-8561

pii

clinchem.2008.111864

journal_volume

55

pub_type

杂志文章
  • Iron and total iron-binding capacity in serum of patients receiving iron-dextran: Kodak Ektachem methodologies, spectrophotometry, and atomic-absorption spectrometry compared.

    abstract::We compared the analytical performance of the Kodak Ektachem XR700 assays of iron (Fe) and total iron-binding capacity (TIBC) with that of a conventional ferrozine assay (performed with a Cobas-Bio) and occasionally with that of atomic-absorption spectrometry (AAS). The correlation was modest between Kodak and Cobas-B...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Vercammen M,Goedhuys W,Boeyckens A,De Roy R,Sennesael J,Sevens C,Gorus F

    更新日期:1990-10-01 00:00:00

  • A search for the best buffer to use in assaying human lactate dehydrogenase with the lactate-to-pyruvate reaction.

    abstract::Highly purified human lactate dehydrogenases I and V were assayed in 17 different buffers, at a variety of reaction pH's. Diethanolamine and 2-amino-2-methyl-1,3-propanediol provided the best measurements of the enzyme, assayed lactate-to-pyruvate. However, the commercial preparation of 2-amino-2-methyl-1,3-propanedio...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Buhl SN,Jackson KY,Lubinski R,Vanderlinde RE

    更新日期:1976-11-01 00:00:00

  • Sensitive time-resolved fluoroimmunoassay of salmon calcitonin.

    abstract::A two-site assay was developed by use of the "dissociation and enhancement lanthanide fluoroimmunoassay" (DELFIA) technique for determination of salmon calcitonin (SCT) in serum after administration to osteoporotic patients. Polyclonal antibodies were produced in rabbits immunized with SCT coupled to ovalbumin. After ...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Rong H,Tørring O,Sääf M,Sjöstedt U,Sjöberg HE,Bucht E

    更新日期:1994-09-01 00:00:00

  • Analysis for platinum in biological material by flameless atomic absorption spectrometry.

    abstract::A method for determining platinum in biological materials by flameless atomic absorption spectrometry has been developed for use in pharmacological studies of platinum antitumor compounds. Tissue digests are analyzed in a heated graphite atomizer, with use of background correction and ramp temperature charring. We hav...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Pera MF Jr,Harder HC

    更新日期:1977-07-01 00:00:00

  • Alternatives to radioimmunoassay: labels and methods.

    abstract::We review the following labels used as substitutes for radioisotopes in immunoassay systems: bacteriophages, chemiluminescence precursors, fluorochromes, fluorogens, fluorescence quenchers, enzymes, coenzymes, inhibitors, substrates, various particulates, metal atoms, and stable free radicals. New methods for performi...

    journal_title:Clinical chemistry

    pub_type: 杂志文章,评审

    doi:

    authors: Schall RF Jr,Tenoso HJ

    更新日期:1981-07-01 00:00:00

  • Noninvasive glucose monitoring in diabetic patients: a preliminary evaluation.

    abstract::Noninvasive monitoring of blood/tissue glucose concentrations has been successfully accomplished in individual diabetic subjects by using near-infrared (NIR) spectroscopy coupled with chemometric methods. Three different spectrometer configurations were tested: a) a Fourier-transform infrared spectrometer with an indi...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Robinson MR,Eaton RP,Haaland DM,Koepp GW,Thomas EV,Stallard BR,Robinson PL

    更新日期:1992-09-01 00:00:00

  • An inter- and intralaboratory quality-control survey of radioimmunoassay of insulin, thyroxin, thyrotropin, cortisol, digoxin, gastrin, beta 2-microglobulin, and IgE in Japan with commercially available kits.

    abstract::We report results of a quality-control survey of radioimmunoassay (RIA) of eight analytes, participated in by 249 laboratories of various types throughout Japan. For the purpose of the external control survey, lyophilized specimens containing two different concentrations of each analyte were sent to the participating ...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Shishiba Y,Irie M,Yamada H,Kinoshita F

    更新日期:1983-08-01 00:00:00

  • Sensitivity of immunofixation electrophoresis for detecting IgM paraproteins in serum.

    abstract::Detection and characterization of small IgM paraproteins by immunoelectrophoresis are often difficult because of (a) slow diffusion of the macromolecular immunoglobulin, and (b) the obscuring of the light chain, especially kappa, by the light chains of background polyclonal immunoglobulin (the "umbrella effect"). Vari...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Kahn SN,Bina M

    更新日期:1988-08-01 00:00:00

  • Cortisol production rate determined by radio gas-chromatography.

    abstract::We describe a ratio gas-chromatographic method for determination of cortisol production rate by measuring the isotope dilution of urinary cortisol metabolites. The method was calibrated by analyzing [3H]tetrahydrocortisol and [3H]tetrahydrocortisone of known specific activities. Results are reasonably well reproducibl...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Derks HJ,Muskiet FA,Wolthers BG,Thijssen JH,Drayer NM

    更新日期:1977-03-01 00:00:00

  • Evaluation of the BMC glucose oxidase/peroxidase-4-aminophenazone-phenol procedure for glucose as adapted to the Technicon SMAC.

    abstract::We evaluated the analytical performance of Trinder's glucose oxidase (EC 1.1.3.4)/peroxidase (EC 1.11.1.7) 4-aminophenazone-phenol method for the quantification of serum glucose as adapted to the Technicon SMAC. Our results correlated well with those by the routine SMAC glucose oxidase/peroxidase 3-methyl-2-benzothiaz...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Purcell GV,Behenna DB,Walsh PR

    更新日期:1979-10-01 00:00:00

  • Cannabinoids in exhaled breath following controlled administration of smoked cannabis.

    abstract:BACKGROUND:Δ(9)-Tetrahydrocannabinol (THC), 11-nor-9-carboxy-THC (THCCOOH), and cannabinol (CBN) were measured in breath following controlled cannabis smoking to characterize the time course and windows of detection of breath cannabinoids. METHODS:Exhaled breath was collected from chronic (≥4 times per week) and occas...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2013.207407

    authors: Himes SK,Scheidweiler KB,Beck O,Gorelick DA,Desrosiers NA,Huestis MA

    更新日期:2013-12-01 00:00:00

  • Rapid, simple, and sensitive immunoagglutination assay with SiO2 particles and quartz crystal microbalance for quantifying Schistosoma japonicum antibodies.

    abstract:BACKGROUND:The resurgence of the parasitic disease schistosomiasis calls for more efficient diagnostic tests. We developed a rapid, simple, portable, and sensitive immunoagglutination assay that uses SiO(2) particles and quartz crystal microbalance (QCM) for quantifying Schistosoma japonicum (Sj) antibodies (SjAb). ME...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2006.071555

    authors: Wang H,Zhang Y,Yan B,Liu L,Wang S,Shen G,Yu R

    更新日期:2006-11-01 00:00:00

  • Improved detection of oligoclonal IgG in cerebrospinal fluid by isoelectric focusing in agarose, double-antibody peroxidase labeling, and avidin-biotin amplification.

    abstract::To demonstrate oligoclonal IgG bands (I) in unconcentrated cerebrospinal fluid, we used isoelectric focusing in agarose followed by protein transfer to cellulose nitrate membrane, double-antibody peroxidase labeling, and avidin-biotin amplification. I can be reliably seen after isoelectric focusing of 5-microL specime...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Olsson T,Kostulas V,Link H

    更新日期:1984-07-01 00:00:00

  • Factors behind the increase in cardiovascular mortality in Russia: apolipoprotein AI and B distribution in the Arkhangelsk study 2000.

    abstract:BACKGROUND:Cardiovascular mortality is markedly higher in Russia than in Western Europe and the US. Little is known about indicators of atherosclerotic risk in the Russian population. To our knowledge, this is the first study of apolipoprotein (apo) AI and B in Russia based on the WHO-IFCC standard. METHODS:We measure...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2003.023853

    authors: Averina M,Nilssen O,Brenn T,Brox J,Arkhipovsky VL,Kalinin AG

    更新日期:2004-02-01 00:00:00

  • Clinical evaluation of a lead mobilization test using the chelating agent dimercaptosuccinic acid.

    abstract:BACKGROUND:The lead mobilization test reflects the mobilizable and likely toxicologically active fraction of the lead body burden. We propose a safe and convenient protocol for this test, to assess concomitant copper and zinc excretion and to determine the size of the chelatable lead pool in nonoccupationally exposed a...

    journal_title:Clinical chemistry

    pub_type: 临床试验,杂志文章

    doi:10.1373/clinchem.2005.051128

    authors: Hoet P,Buchet JP,Decerf L,Lavalleye B,Haufroid V,Lison D

    更新日期:2006-01-01 00:00:00

  • Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis.

    abstract:BACKGROUND:About 5% of patients with neurofibromatosis type 1 (NF1) bear constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes. These patients are characterized by the development of a high number of dermal neurofibromas (dNFs), mental retardation, and an increased risk of developing ...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2012.194217

    authors: Terribas E,Garcia-Linares C,Lázaro C,Serra E

    更新日期:2013-06-01 00:00:00

  • Colorimetry of angiotensin-I converting enzyme activity in serum.

    abstract::This simple, accurate, and reproducible colorimetric method for determining the activity of angiotensin-I converting enzyme is based upon colorimetry of the quinoneimine dye produced from the substrate p-hydroxyhippuryl-L-histidyl-L-leucine by action of this enzyme through the following series of reactions. The enzyme...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Kasahara Y,Ashihara Y

    更新日期:1981-11-01 00:00:00

  • Screening for primary aldosteronism in essential hypertension: diagnostic accuracy of the ratio of plasma aldosterone concentration to plasma renin activity.

    abstract:BACKGROUND:The ratio of plasma aldosterone concentration to plasma renin activity (PRA) is considered the screening test of choice for primary aldosteronism. Uncertainty exists, however, regarding its diagnostic accuracy and the effects of antihypertensive drugs and dietary sodium balance on test characteristics. METH...

    journal_title:Clinical chemistry

    pub_type: 临床试验,杂志文章

    doi:10.1373/clinchem.2004.041780

    authors: Schwartz GL,Turner ST

    更新日期:2005-02-01 00:00:00

  • Relationships between immunogen structure and antisera specificity in the narcotic alkaloid series.

    abstract::We report the production and comparative specificities of antisera raised to different immunogens containing codeine, morphine, and oxycodone. Antisera raised to bovine serum albumin (BSA) conjugates of codeine-6-hemisuccinate, ethylmorphine-6-hemisuccinate, or oxycodone-6-carboxymethyloxime had greatest recognition o...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Findlay JW,Butz RF,Jones EC

    更新日期:1981-09-01 00:00:00

  • Free triiodothyronine and free thyroxin in sera of pregnant women and subjects with congenitally increased or decreased thyroxin-binding globulin.

    abstract::Concentrations of free thyroxin (T4) and free triiodothyronine (T3) were measured in sera from pregnant women, in subjects with congenitally increased or decreased thyroxin-binding globulin (TBG), and in euthyroid controls. Measured free hormone concentrations were compared with calculated values for free hormone deri...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Franklyn JA,Sheppard MC,Ramsden DB,Hoffenberg R

    更新日期:1983-08-01 00:00:00

  • Expression profile of microRNAs in serum: a fingerprint for esophageal squamous cell carcinoma.

    abstract:BACKGROUND:Sensitive and specific biomarkers for the early detection of esophageal squamous cell carcinoma (ESCC) are urgently needed to reduce the high morbidity and mortality of the disease. The discovery of serum microRNAs (miRNAs) and their unique concentration profiles in patients with various diseases makes them ...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2010.147553

    authors: Zhang C,Wang C,Chen X,Yang C,Li K,Wang J,Dai J,Hu Z,Zhou X,Chen L,Zhang Y,Li Y,Qiu H,Xing J,Liang Z,Ren B,Yang C,Zen K,Zhang CY

    更新日期:2010-12-01 00:00:00

  • Rapid Zeeman atomic absorption determination of copper in serum and urine.

    abstract::In this simple, quick procedure for determining copper in human serum and urine, the serum and urine specimens were analyzed directly after dilution with a solution of HNO3 and Triton X-100, 1 mL/L each. We calibrated with aqueous standards for quantitation in Zeeman background atomic absorption spectrometry. By modif...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Wang ST,Demshar HP

    更新日期:1993-09-01 00:00:00

  • Osteocalcin concentrations in plasma prepared with different anticoagulants.

    abstract::We investigated the effects on plasma osteocalcin concentrations of different anticoagulants used to collect the blood samples. Plasma osteocalcin concentrations measured by enzyme immunoassay and radioimmunoassay are influenced by the nature of the anticoagulants used. The most significant difference between concentr...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Power MJ,O'Dwyer B,Breen E,Fottrell PF

    更新日期:1991-02-01 00:00:00

  • Trace metal analysis by laser-enhanced ionization in flames.

    abstract::We review atomic flame spectrometry of metals based on the selective laser-enhancement of the rate of atomic ionization. A discussion of basic principles, prior literature, and instrumentation is followed by an overview of analytical figures of merit for the technique, and a look at its present status and areas for fu...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Travis JC,Turk GC,DeVoe JR

    更新日期:1983-09-01 00:00:00

  • More sensitive flameless atomic absorption analysis of vanadium in tissue and serum.

    abstract::We describe a sensitive method for the determination of vanadium in biological substances by atomic absorption spectroscopy. By using background correction and pyrolytically coated graphite tubes with flameless apparatus, this vanadium assay has a sensitivity of 65 pg and a detection limit of 30 pg, approximately sixf...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Stroop SD,Helinek G,Greene HL

    更新日期:1982-01-01 00:00:00

  • Expression of prostate-specific antigen and prostate-specific membrane antigen transcripts in blood cells: implications for the detection of hematogenous prostate cells and standardization.

    abstract::Circulating prostate cells can be detected in cancer patients by using reverse transcriptase-PCR (RT-PCR) assay for prostate-specific antigen (PSA) and prostate-specific membrane antigen (PSM) mRNA. A quality-control study involving a conventional RT-PCR assay was performed and, surprisingly, detected both transcripts...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Gala JL,Heusterspreute M,Loric S,Hanon F,Tombal B,Van Cangh P,De Nayer P,Philippe M

    更新日期:1998-03-01 00:00:00

  • Do enzymatic analyses of serum triglycerides really need blanking for free glycerol?

    abstract::Distributions of concentrations of free glycerol in clinical plasma obtained for triglyceride assay were compiled to determine the frequency with which increased concentrations of free glycerol posed a potential problem for clinical interpretation of triglyceride results. Clinical histories were studied in patients wi...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Jessen RH,Dass CJ,Eckfeldt JH

    更新日期:1990-07-01 00:00:00

  • Tumor necrosis factor-alpha -308G>A allelic variant modulates iron accumulation in patients with hereditary hemochromatosis.

    abstract:BACKGROUND:In vitro and animal studies suggest that tumor necrosis factor alpha (TNF-alpha) modulates intestinal iron transport. We hypothesized that the effect of TNF-alpha might be particularly relevant if iron absorption is not effectively controlled by the HFE gene. METHODS:In patients with homozygous C282Y hemoch...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2005.065417

    authors: Krayenbuehl PA,Maly FE,Hersberger M,Wiesli P,Himmelmann A,Eid K,Greminger P,Vetter W,Schulthess G

    更新日期:2006-08-01 00:00:00

  • Biological variation of lipids and lipoproteins in fingerstick blood.

    abstract::The biological variability of total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and calculated low-density lipoprotein cholesterol (LDL-C) was determined in three serial (monthly) capillary and venous specimens from 83 subjects. The analytes were quantified with a desktop analyz...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:

    authors: Kafonek SD,Donovan L,Lovejoy KL,Bachorik PS

    更新日期:1996-12-01 00:00:00

  • Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles.

    abstract:BACKGROUND:Massively parallel sequencing has recently been used in noninvasive prenatal diagnosis. The current costs of this technology are still relatively expensive, however, and sample throughput is still relatively low when it is used as a molecular diagnostic tool. Rather than nonselectively sequencing the genome,...

    journal_title:Clinical chemistry

    pub_type: 杂志文章

    doi:10.1373/clinchem.2010.154336

    authors: Liao GJ,Lun FM,Zheng YW,Chan KC,Leung TY,Lau TK,Chiu RW,Lo YM

    更新日期:2011-01-01 00:00:00