Abstract:
BACKGROUND:Institutions face increasing charges related to molecular genetic testing for neurological diseases. The literature contains little information on the utilization and performance of these tests. METHODS:A retrospective utilization review was performed to determine the diagnostic yield of neurogenetic tests ordered during calendar year 2005 at a large academic medical center in the western United States. RESULTS:Overall, a relevant mutation was identified in 30.2% of the 162 patients tested and in 21.5% of the 121 probands, defined as patients for whom no mutation has been previously identified in a family member. Patients with muscle weakness (n = 65) had a mutation detected in 26.2% of all patients and 23.5% of probands (n = 51), with an estimated testing cost per positive result of $3190. Patients tested for neuropathy (n = 36) had a mutation detected in 27.8% of patients and 22.6% of probands (n = 31), with an estimated cost per positive result of $5955. Patients with chorea (n = 25) had a positive result obtained in 68% of patients and 71.4% of probands (n = 7); the estimated cost per positive test was $440. Other diagnostic categories evaluated include ataxias (n = 18; yield, 11.1%; $7620 per positive), familial stroke or dementia syndromes (n = 8; yield, 12.5%; $6760 per positive), and multisystem mitochondrial disorders (n = 10; yield, 20%; $6485 per positive). CONCLUSIONS:Expert clinicians at a tertiary care center who ordered neurogenetic tests obtained a positive result in 21.5% of patients without previously identified familial mutations. These results can be used for comparison and to help establish utilization guidelines for neurogenetic testing.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Edlefsen KL,Tait JF,Wener MH,Astion Mdoi
10.1373/clinchem.2006.083360subject
Has Abstractpub_date
2007-06-01 00:00:00pages
1016-22issue
6eissn
0009-9147issn
1530-8561pii
clinchem.2006.083360journal_volume
53pub_type
杂志文章abstract::We describe a time-resolved immunofluorometric assay (IFMA) for corticotropin in unextracted human plasma, based on the use of two monoclonal antibodies: europium-labeled antibody 1A12 and antibody 2A3 coated onto microtiter wells. We compared the results of this assay with those of an immunoradiometric assay (IRMA) p...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00
abstract:BACKGROUND:Proteomic technology permits the investigation of genetic metabolic diseases at the level of protein expression. Changes in the expression, polypeptide structure, and posttranslational modification of individual proteins can be detected in complex mixtures of proteins. METHODS:We used high-resolution two-di...
journal_title:Clinical chemistry
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doi:
更新日期:2001-11-01 00:00:00
abstract::We developed a highly sensitive, convenient assay for measuring blocking-type anti-acetylcholine receptor antibodies, which inhibit the binding of 125I-labeled alpha-bungarotoxin (alpha-BuTx) to the acetylcholine receptor (AChR). This procedure detected inhibitory activities in sera from 76% of patients with myastheni...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::Ethchlorvynol is a commonly abused sedative hypnotic. I report here a seven-day study of serum ethchlorvynol concentrations in a patient who had received an extreme overdose. These concentrations were correlated with the patient's response to stimuli. Serum ethchlorvynol concentrations were logarithmically related to ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
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abstract:BACKGROUND:A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is caused by unequal gene crossover in the CYP21 genes during meiosis. The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::A micro version of a nuclear binding assay to assess the biological activity of receptors for steroid hormones was developed for application to small (needle) biopsies of human tumors for the purpose of predicting responses to steroid therapy. This easier assay requires 10-fold less tissue than the original nuclear bi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2003.026591
更新日期:2004-04-01 00:00:00
abstract::We measured glucocorticoid receptors (GR) in mononuclear leukocytes (MNL) isolated from peripheral blood of 145 apparently healthy volunteers (86 men and 59 women). An age-related decrease in the number of GR was suggested between subjects younger than 20 years and elderly subjects; there was no apparent seasonal vari...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::We describe a new liquid-chromatographic method with fluorescence detection for direct simultaneous determination of four urinary sulfate conjugates of 17-oxosteroids (17OS), without use of solvolysis or enzymatic hydrolysis. The 17OS sulfates in urine samples are extracted with benzene as ion pairs in the presence of...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-05-01 00:00:00
abstract::We have reported (Clin Chem 29: 42-44, 1983) that prestaining with Remazol Brilliant Blue permits direct visualization of serum components on disc electrophoresis, and apparently purifies the proteins well. Here we have cut out the bands corresponding to the prestained albumin and transferrin after disc electrophoresi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-07-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.104711
更新日期:2008-10-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-10-01 00:00:00
abstract:BACKGROUND:The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatmen...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2014.230086
更新日期:2015-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1093/clinchem/hvaa282
更新日期:2020-12-04 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-07-01 00:00:00
abstract::We describe a modified tantalum ribbon atomic absorption procedure for determining lead in undiluted whole blood. An instrumentation Laboratory (I.L.) Model 151 atomic absorption spectrophotometer equipped with an I.L. Model 355 Flameless Sampler was used. The Flameless Sampler was slightly modified to include three-c...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1978-07-01 00:00:00
abstract::The current debate on our healthcare system has focused primarily on the cost of care. Because of drastically rising costs and their burden on our economy, government and the private sector have developed many approaches to reduce these costs. Managed care, special contracting arrangements, and government fiat have al...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Specific gravity (SG) may perform as well as creatinine (CR) correction for adjusting urinary hormone concentrations, as well as offer some advantages. We compared the two methods and applied them to US and Bangladeshi specimens to evaluate their use in different populations. METHODS:Pearson correlations be...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2004.032292
更新日期:2004-05-01 00:00:00
abstract::This one-dimensional thin-layer chromatographic method is used for assay of phospholipids in the gastric aspirate of newborns. The solvent mixture (chloroform/hexane/methanol/glacial acetic acid/water, 12/7/4/3/0.3 by vol) completely resolves lecithin, sphingomyelin, phosphatidylinositol, phosphatidylserine, phosphati...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-04-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-10-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2010.153908
更新日期:2011-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::The IFCC-recommended procedure for aspartate aminotransferase (EC 2.6.1.1) was adapted to the centrifugal analyzer and evaluated during five years. The main hindrance to widespread use of the recommended method is the need for pre-incubation with pyridoxal phosphate. The present method includes a 10-min pre-incubation...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
abstract::The apolipoprotein A-I (apo A-I) radioimmunoassay established in our laboratory involves use of purified apo A-I as the primary standard for quantifying apo A-I in plasma and a pooled plasma (quality-control sample) as a secondary standard to decrease interassay variation. The measured values for apo A-I increased ove...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-07-01 00:00:00
abstract::Light that penetrates scattering media shows nonlinearities that mask the broad and shallow perturbations made by trace analytes on the background illuminant spectrum. Narrow-band spectroscopic decomposition and deconvolution of such weak bands is a formidable analytical task that pushes the fundamentally linear spect...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract::The objective of this study was to develop a clinical laboratory method for subclass typing of human immunoglobulin G (IgG) paraproteins. Serum proteins were isoelectrically focused (IEF) in a mini-gel and passively blotted by capillary diffusion onto untreated nitrocellulose. Unreacted sites on the nitrocellulose wer...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract::Serial measurements of the bone and fetal intestinal isoenzymes of alkaline phosphatase (EC 3.1.3.1) in the plasma of 43 term and 43 preterm infants, from birth to six weeks later, indicate that the bone isoenzyme gradually increases over this period in both preterm and term infants fed with unsupplemented commercial ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00