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 treatment. Owing to the high impact of 22q11DS on public health, propositions have been made to include 22q11DS in newborn screening panels; however, the method of choice for detecting 22q11DS, fluorescent in situ hybridization, requires specialized equipment and is cumbersome for most laboratories to implement as part of their routine screening. We sought to develop a new genetic screen for 22q11DS that is rapid, cost-effective, and easily used by laboratories currently performing newborn screening. METHODS:We evaluated the accuracy of multiplex droplet digital PCR (ddPCR) in the detection of copy number of 22q11DS by screening samples from 26 patients with 22q11DS blindly intermixed with 1096 blood spot cards from the general population (total n = 1122). RESULTS:Multiplex ddPCR correctly identified all 22q11DS samples and distinguished between 1.5- and 3-Mb deletions, suggesting the approach is sensitive and specific for the detection of 22q11DS. CONCLUSIONS:These data demonstrate the utility of multiplex ddPCR for large-scale population-based studies that screen for 22q11DS. The use of samples from blood spot cards suggests that this approach has promise for newborn screening of 22q11DS, and potentially for other microdeletion syndromes, for which early detection can positively impact clinical outcome for those affected.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Pretto D,Maar D,Yrigollen CM,Regan J,Tassone Fdoi
10.1373/clinchem.2014.230086subject
Has Abstractpub_date
2015-01-01 00:00:00pages
182-90issue
1eissn
0009-9147issn
1530-8561pii
clinchem.2014.230086journal_volume
61pub_type
杂志文章abstract：:The measurement of glycohemoglobin (GHb) by boronate affinity chromatography is useful in monitoring long-term glucose control in diabetic subjects. The inherent disadvantage of this method is the hands-on time required because the hemoglobin fractions are separated on individual disposable columns. To overcome this d...
journal_title：Clinical chemistry
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abstract：BACKGROUND:Published literature was systematically reviewed to determine the diagnostic accuracy of new protein markers of acute coronary syndromes (ACS) in symptomatic outpatients at low risk of ACS and related complications comparable to patients evaluated in emergency department chest pain units. METHODS:Studies we...
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doi：10.1373/clinchem.2005.052456
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doi：10.1373/clinchem.2011.162966
更新日期：2011-11-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1993-09-01 00:00:00
abstract：:An optimized assay for alkaline phosphatase (EC 3.1.3.1) is reported. A discrete analyzer, the DuPont Automatic Clinical Analyzer (aca), was used for this study. The assay is based on results of response-surface experimental co-optimization techniques, and response is enhanced over the present aca assay. A key feature...
journal_title：Clinical chemistry
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更新日期：1981-07-01 00:00:00
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pub_type： 杂志文章,评审
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更新日期：2000-12-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1977-06-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1984-04-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1987-02-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1979-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章,评审
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更新日期：1994-02-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1979-10-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
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更新日期：2001-08-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1981-11-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1979-03-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1989-08-01 00:00:00
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更新日期：1994-11-01 00:00:00
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doi：10.1373/49.7.1133
更新日期：2003-07-01 00:00:00
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doi：10.1373/clinchem.2004.036236
更新日期：2005-01-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1993-11-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1980-09-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1981-09-01 00:00:00
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更新日期：1982-04-01 00:00:00
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doi：
更新日期：1988-12-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1981-01-01 00:00:00
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doi：
更新日期：1984-06-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1980-03-01 00:00:00
