Advantages of the implementation of a second-tier test strategy in the newborn screening

被引:0
|
作者
Berto, M. Santes [1 ]
Bauca, J. M. [1 ]
Alaejos, A. Rubio [1 ]
Rodriguez, M. Pons [2 ]
Gual, M. Amengual [2 ]
Adrover, A. Saiz [1 ]
Martinez, C. Carrasco [1 ]
Ferrer, L. Canals [1 ]
Garcia, B. Garcia [1 ]
Bauza, J. Robles [1 ]
机构
[1] Son Espases Univ Hosp, Clin Anal Dept, Palma de Mallorca, Spain
[2] Son Espases Univ Hosp, Neuropaediat Unit, Palma de Mallorca, Spain
关键词
D O I
10.1016/j.cca.2024.119325
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
P1670
引用
收藏
页数:1
相关论文
共 50 条
  • [1] Next-generation sequencing as a second-tier diagnostic test for newborn screening
    Luo, Xiaomei
    Wang, Ruifang
    Fan, Yanjie
    Gu, Xuefan
    Yu, Yongguo
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (08): : 927 - 931
  • [2] CK-MM as a second-tier test for Pompe disease newborn screening
    An-Ju, Lee
    Chen, Pin-Wen
    Chien, Yin-Hsiu
    Hwu, Wuh-Liang
    [J]. MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 7 - 7
  • [3] Newborn screening for primary carnitine deficiency using a second-tier genetic test
    Lin, Yiming
    Lin, Chunmei
    Zheng, Zhenzhu
    Huang, Chenggang
    Peng, Weilin
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (02): : 163 - 169
  • [4] Second-tier strategies in newborn screening - potential and limitations
    Gramer, Gwendolyn
    Hoffmann, Georg F.
    [J]. MEDIZINISCHE GENETIK, 2022, 34 (01) : 21 - 28
  • [5] Impact of Second-Tier Testing on the Effectiveness of Newborn Screening
    Chace, Donald H.
    Hannon, W. Harry
    [J]. CLINICAL CHEMISTRY, 2010, 56 (11) : 1653 - 1655
  • [6] Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
    Ruiz-Schultz, Nicole
    Sant, David
    Norcross, Stevie
    Dansithong, Warunee
    Hart, Kim
    Asay, Bryce
    Little, Jordan
    Chung, Krystal
    Oakeson, Kelly F.
    Young, Erin L.
    Eilbeck, Karen
    Rohrwasser, Andreas
    [J]. GENETICS IN MEDICINE, 2021, 23 (04) : 767 - 776
  • [7] Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
    Burlina, Alberto B.
    Polo, Giulia
    Rubert, Laura
    Gueraldi, Daniela
    Cazzorla, Chiara
    Duro, Giovanni
    Salviati, Leonardo
    Burlina, Alessandro P.
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2019, 5 (02)
  • [8] Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
    Chen, Hui -An
    Hsu, Rai-Hseng
    Chen, Yu -Han
    Chiang, Shu-Chang
    Lee, Ni-Chung
    Hwu, Wuh-Liang
    Chiu, Pao -Chin
    Chien, Yin-Hsiu
    [J]. MOLECULAR GENETICS AND METABOLISM, 2022, 136 (04) : 330 - 336
  • [9] Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
    Tortorelli, Silvia
    Eckerman, Jason S.
    Orsini, Joseph J.
    Stevens, Colleen
    Hart, Jeremy
    Hall, Patricia L.
    Alexander, John J.
    Gavrilov, Dimitar
    Oglesbee, Devin
    Raymond, Kimiyo
    Matern, Dietrich
    Rinaldo, Piero
    [J]. GENETICS IN MEDICINE, 2018, 20 (08) : 840 - 846
  • [10] Blood spot methylmalonic acid as a second-tier test for tandem mass newborn screening with propionylcarnitine
    Chen, P. W.
    Chien, Y. H.
    Hwu, W. L.
    Chen, L. C.
    Tseng, S. C.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 15 - 15