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West Ashley Library
9 a.m. - 5 p.m.
Phone: (843) 766-6635
Wando Mount Pleasant Library
9 a.m. - 5 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 1 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 5 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 5 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. – 5 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. – 1 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
9 a.m. - 5 p.m.
Phone: (843) 744-2489
John's Island Library
9 a.m. - 5 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. - 5 p.m.
Phone: (843) 766-2546
Folly Beach Library
9 a.m. - 2 p.m.
*open the 2nd and 4th Saturday
*open the 2nd and 4th Saturday
Phone: (843) 588-2001
Dorchester Road Library
9 a.m. - 5 p.m.
Phone: (843) 552-6466
John L. Dart Library
9 a.m. - 5 p.m.
Phone: (843) 722-7550
Bees Ferry West Ashley Library
9 a.m. - 5 p.m.
Phone: (843) 805-6892
Baxter-Patrick James Island
9 a.m. - 5 p.m.
Phone: (843) 795-6679
Miss Jane's Building (Edisto Library Temporary Location)
Closed
Phone: (843) 869-2355
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Main Library
9 a.m. - 5 p.m.
Phone: (843) 805-6930
Mobile Library
Closed
Phone: (843) 805-6909
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Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
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- Author(s): Tsuchiya, Karen D.; Funke, Birgit; Hegde, Madhuri; Santani, Avni; Souers, Rhona J.; Szelinger, Szabolcs; Halley, Jaimie; Qin Zhao; Mot, Nicole; Roy, Angshumoy; Smith, Vanessa L.; Zhang, Bing M.; Voelkerding, Karl; Moyer, Ann M.
- Source:
Archives of Pathology & Laboratory Medicine. Jul2024, Vol. 148 Issue 7, p775-783. 9p. - Source:
- Additional Information
- Subject Terms:
- Abstract: Context.--Next-generation sequencing (NGS)--based assays are used for diagnosis of diverse inherited disorders. Limited data are available pertaining to interlaboratory analytical performance of these assays. Objective.--To report on the College of American Pathologists (CAP) NGS Germline Program, which is methods based, and explore the evolution in laboratory testing practices. Design.--Results from the NGS Germline Program from 2016--2020 were analyzed for interlaboratory analytical performance. Self-reported laboratory testing practices were also evaluated. Results.--From 2016--2020, a total of 297 laboratories participated in at least 1 program mailing. Of the 289 laboratories that provided information on tests offered, 138 (47.8%) offered only panel testing throughout their enrollment, while 35 (12.1%) offered panels and exome testing, 30 (10.4%) offered only exomes, 9 (3.1%) offered only genomes, and 15 (5.2%) offered panels, exomes, and genomes. The remainder (62 laboratories, 21.4%) changed their test offerings during the 2016--2020 timeframe. Considering each genomic position/interval, the median detection percentage at variant positions across the 2016--2020 mailings ranged from 94.3% to 100%, while at reference positions (no variant detected), the median correct response percentage was 100% across all mailings. When considering performance of individual laboratories, 89.5% (136 of 152) to 98.0% (149 of 152) of laboratories successfully met the detection threshold (≥90% of the variants present), while 94.6% (87 of 92) to 100% (163 of 163) of laboratories met the 95% specificity threshold across mailings. Conclusions.--Since the inception of this program, laboratories have consistently performed well. The median sensitivity and specificity of detection of sequence variants included in this program (eg, single nucleotide variants, insertions, and deletions) were 100.0%. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Archives of Pathology & Laboratory Medicine is the property of College of American Pathologists and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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