Results 251 to 260 of about 13,071,153 (288)

Second-tier testing for homocystinuria and for maple syrup urine disease

2012
One difficulty that many laboratories face with expanded newborn screening is a high number of false positive test results. Modifying cutoffs has been used to reduce the false positive rate, but this is done at the expense of increasing the number of false negative test results.
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Detection of Maple Syrup Urine Disease on Newborn Screening Second Tier Testing for Phenylketonuria

Acta Medica Philippina, 2009
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Sylvia Capistrano-Estrada, Charity M. Jomento   +1 more
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Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening

Amino Acids, 2012
The quantitative analysis of amino acids (AAs) in single dry blood spot (DBS) samples is an important issue for metabolic diseases as a second-tier test in newborn screening. An analytical method for quantifying underivatized AAs in DBS was developed by using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The sample preparation
Chunyan, Wang, Hongbin, Zhu, Wenyan, Zhang, Fengrui, Song, Zhiqiang, Liu, Shuying, Liu   +5 more
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Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease

Genetics in Medicine
To review the performance and outcomes of a second-tier newborn screening test for Pompe disease.We followed our previously published screening approach that reduces false-positive results by incorporating creatine and creatinine levels and postanalytic tools in a second-tier test.We reviewed 1879 blood samples from neonates born in 11 states.
Ibrahim T. Khoja, Dawn S. Peck, Dimitar K. Gavrilov, Molly A. McPheron, Devin Oglesbee, Gisele Bentz Pino, Katie L. Sapp, Matthew J. Schultz, April L. Studinski Jones, Amy L. White, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall   +12 more
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The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

European Journal of Medical Genetics, 2014
We describe here a 34 months child, practically asymptomatic which presented with high levels of free sialic acid in urine by biochemical detection in second-tier tests newborn screening and with two disease causing mutations in SLC17A5 gene. SLC17A5 mutation analysis showed p.Tyr306* previously described and the novel mutation p.Leu167Pro.
María L, Couce, Judit, Macías-Vidal, Daisy E, Castiñeiras, María D, Bóveda, José M, Fraga, Ana, Fernández-Marmiesse, María J, Coll   +6 more
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Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

Genetics in Medicine, 2011
: Bedside newborn hearing screening is highly successful in identifying deaf or hard-of-hearing infants. However, newborn hearing screening protocols have high loss to follow-up rates. We propose that bloodspot-based genetic testing for GJB2 alleles can provide a means for rapid confirmation in a subset of infants who fail bedside newborn hearing ...
Lisa A, Schimmenti, Berta, Warman, Mark R, Schleiss, Kathleen A, Daly, Julie A, Ross, Mark, McCann, Anne M, Jurek, Susan A, Berry   +7 more
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[Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]

Revista espanola de salud publica, 2021
Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families.
Sonia, Pajares García, Rosa Mª, López Galera, Jose Luis, Marín Soria, Ana, Argudo Ramírez, Jose Manuel, González de Aledo-Castillo, Antonia, Ribes Rubió, Blanca, Prats Viedma, Laia, Asso Ministral, Judit, García-Villoria   +8 more
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Second tier testing for newborn screening: The Michigan experience

Molecular Genetics and Metabolism, 2020
Rachel Fisher, Shane Quinonez, Linda Spender, David Stockton, Joan Ehrhardt, Mary Kleyn, Karen Andruszewski, Ayesha Ahmad   +7 more
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CK-MM as a second-tier test for Pompe disease newborn screening

Molecular Genetics and Metabolism, 2023
Lee An-Ju, Pin-Wen Chen, Yin-Hsiu Chien, Wuh-Liang Hwu   +3 more
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Next generation sequencing as second-tier test in newborn screening programs

2017
Peer ...
Rodríguez, Jairo, Fernández Carvajal, M. Isabel, Alonso, Maria Jesús, Pérez-Jurado, Luis Alberto   +3 more
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