Results 11 to 20 of about 13,071,153 (288)

Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency [PDF]

Molecular Genetics & Genomic Medicine
Background Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test.
Yiming Lin, Zhenzhu Zheng, Weihua Lin, Weilin Peng   +3 more
doaj   +5 more sources

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Journal of Inborn Errors of Metabolism and Screening, 2016
Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates.
Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG   +5 more
doaj   +6 more sources

Analysis of Student’s Conceptual Understanding Using Two-Tier Multiple Choice Diagnostic Test on Acid-Base Topic [PDF]

E3S Web of Conferences, 2023
This study aims to determine students’ understanding of concepts using a two-tier multiple-choice diagnostic test on acid-base material. The number of samples is 31 respondents. This type of research is descriptive qualitative.
Lukum Astin, Karongkong Nisma, Pikoli Masrid, Tangio Julhim S., Mohamad Erni, Rewini Kunusa Wiwin   +5 more
doaj   +4 more sources

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges [PDF]

International Journal of Neonatal Screening, 2020
Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS).
Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, Arindam Bhattacharjee   +3 more
doaj   +3 more sources

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests [PDF]

BMC Medical Genetics, 2013
Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS.
Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu   +6 more
doaj   +3 more sources

The Two-Tier Fecal Occult Blood Test: Cost-Effective Screening [PDF]

Canadian Journal of Gastroenterology, 1994
The two-tier test represents a strategy combining HO Sensa and Hemeselect fecal occult blood tests (FOBTs) with the aim of greater specificity and consequent economic advantages.
Andrew J Rae, Iain GM Cleator
doaj   +2 more sources

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

International Journal of Neonatal Screening, 2018
Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in ...
Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien   +7 more
doaj   +2 more sources

A novel single-tier serologic test to diagnose all stages of Lyme disease

Journal of Clinical Microbiology
Lyme disease, a bacterial zoonosis, is the most commonly reported vector-borne disease in the United States. Laboratory diagnosis has relied on a two-tier serologic approach, originally comprising an ELISA, or another first-tier assay, followed by ...
Andrew E. Levin, Gary P. Wormser, Elizabeth J. Horn, Nadezhda Karaseva, Drew Miller, Hunter Kellogg   +5 more
doaj   +2 more sources

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2021
Abstract Context Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age–adjusted cutoffs. A second heel puncture (HP) is performed in newborns with inconclusive results to reduce false positives.
Stroek, K., Ruiter, A., van der Linde, A.A.A., Ackermans, M., Bouva, M.J., Engel, H., Jakobs, B., Kemper, E.A., van den Akker, E.L., van Albada, M.E., Bocca, G., Finken, M.J.J., Hannema, S.E., Houdijk, E.C., van de Kamp, H.J., van Tellingen, V., van Trotsenburg, A.S., Zwaveling-Soonawala, N., Bosch, A.M., de Jonge, R, Heijboer, A.C., Claahsen-van der Grinten, H.L., Claahsen-van der Grinten, H.L., Boelen, A.   +23 more
  +14 more sources

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +3 more sources