A glimpse into the feasibility of next generation sequencing for newborn screening of lysosomal and other diseases with second-tier biochemical assays as part of the screening process

被引:0
|
作者
Gelb, Michael H. [1 ]
Campagna, Madelynn [2 ]
Philippakis, Anthony A. [3 ]
O'Donnell-Luria, Anne [4 ]
机构
[1] Univ Washington, Chem, Seattle, WA USA
[2] Rensselaer Polytech Inst, Troy, NY USA
[3] Broad Inst, Data Sci, Cambridge, MA USA
[4] Broad Inst, Cambridge, MA USA
关键词
D O I
10.1016/j.ymgme.2022.107110
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
127
引用
收藏
页码:46 / 46
页数:1
相关论文
共 28 条
  • [1] Next-generation sequencing as a second-tier diagnostic test for newborn screening
    Luo, Xiaomei
    Wang, Ruifang
    Fan, Yanjie
    Gu, Xuefan
    Yu, Yongguo
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (08): : 927 - 931
  • [2] Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
    Fleige, Tobias
    Burggraf, Siegfried
    Czibere, Ludwig
    Haring, Julia
    Glueck, Birgit
    Keitel, Lisa Marie
    Landt, Olfert
    Harms, Erik
    Hohenfellner, Katharina
    Durner, Juergen
    Roeschinger, Wulf
    Becker, Marc
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (02) : 193 - 201
  • [3] Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
    Tobias Fleige
    Siegfried Burggraf
    Ludwig Czibere
    Julia Häring
    Birgit Glück
    Lisa Marie Keitel
    Olfert Landt
    Erik Harms
    Katharina Hohenfellner
    Jürgen Durner
    Wulf Röschinger
    Marc Becker
    European Journal of Human Genetics, 2020, 28 : 193 - 201
  • [4] 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
    GENETICS IN MEDICINE, 2021, 23 (04) : 767 - 776
  • [5] Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
    Chan, Toby Chun Hei
    Mak, Chloe Miu
    Yeung, Matthew Chun Wing
    Law, Eric Chun-Yiu
    Cheung, Jana
    Wong, Tsz Ki
    Cheng, Vincent Wing-Sang
    Lee, Jacky Kwan Ho
    Wong, Jimmy Chi Lap
    Fung, Cheuk Wing
    Belaramani, Kiran Moti
    Kwok, Anne Mei Kwun
    Tsang, Kwok Yeung
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2024, 10 (01)
  • [6] SECOND-TIER DNA CONFIRMATION OF NEWBORN METABOLIC AND HEARING LOSS SCREENING USING TARGETED NEXT GENERATION SEQUENCING
    Naylor, E. W.
    Sokolsky, T.
    Puffenberger, E. G.
    Strauss, K. A.
    Morton, D. H.
    Pandya, A.
    Maldonada, F.
    Bhattacharjee, A.
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 237 - 237
  • [7] Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
    Strand, Janne
    Gul, Kiran Aftab
    Erichsen, Hans Christian
    Lundman, Emma
    Berge, Mona C.
    Tromborg, Anette K.
    Sorgjerd, Linda K.
    Ytre-Arne, Mari
    Hogner, Silje
    Halsne, Ruth
    Gaup, Hege Junita
    Osnes, Liv T.
    Kro, Grete A. B.
    Sorte, Hanne S.
    Morkrid, Lars
    Rowe, Alexander D.
    Tangeraas, Trine
    Jorgensen, Jens, V
    Alme, Charlotte
    Bjorndalen, Trude E. H.
    Ronnestad, Arild E.
    Lang, Astri M.
    Rootwelt, Terje
    Buechner, Jochen
    Overland, Torstein
    Abrahamsen, Tore G.
    Pettersen, Rolf D.
    Stray-Pedersen, Asbjorg
    FRONTIERS IN IMMUNOLOGY, 2020, 11
  • [8] Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
    Tsang, Kwok Yeung
    Chan, Toby Chun Hei
    Yeung, Matthew Chun Wing
    Wong, Tsz Ki
    Lau, Wan Ting
    Mak, Chloe Miu
    JOURNAL OF LABORATORY MEDICINE, 2021, 45 (06) : 267 - 274
  • [9] 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.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2019, 5 (02)
  • [10] Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs
    Pajares Garcia, Sonia
    Lopez Galera, Rosa Ma
    Marin Soria, Jose Luis
    Argudo Ramirez, Ana
    de Aledo-Castillo, Jose Manuel Gonzalez
    Ribes Rubio, Antonia
    Prats Viedma, Blanca
    Asso Ministral, Laia
    Garcia-Villoria, Judit
    REVISTA ESPANOLA DE SALUD PUBLICA, 2020, 94