Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA.
DBS
KREC
Newborn Screening
SCID
SMA
SMN1
TREC
XLA
real-time PCR
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
01
09
2019
accepted:
31
10
2019
entrez:
19
10
2020
pubmed:
20
10
2020
medline:
20
10
2020
Statut:
epublish
Résumé
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA). We have developed a four-plex, real-time PCR assay to screen for Severe Combined Immune Deficiencies (SCID), X-linked agammaglobulinemia (XLA), and SMA in DNA extracted from a single 3.2 mm punch of a dried blood spot (DBS). A simple, high-throughput, semi-automated DNA extraction method was developed for a Janus liquid handler that can process 384 DBS punches in four 96-well plates in just over one hour with sample tracking capability. The PCR assay identifies the absence of exon 7 in the
Identifiants
pubmed: 33072998
doi: 10.3390/ijns5040039
pii: IJNS-05-00039
pmc: PMC7510252
doi:
Types de publication
Journal Article
Langues
eng
Pagination
39Informations de copyright
© 2019 by the authors.
Déclaration de conflit d'intérêts
Conflicts of InterestC.G-M., A.T., K.V., M.J., G.F., S.D., D.G., D.S. and R.W. are PerkinElmer employees. Authors representing PerkinElmer had a role in designing the study, in collection, analyses, and interpretation of the data, in the writing of the manuscript, and in the decision to publish the results. The other authors declare no conflict of interest.
Références
Pediatrics. 2006 May;117(5 Pt 2):S296-307
pubmed: 16735256
Clin Biochem. 2012 Jan;45(1-2):88-91
pubmed: 22085534
Clin Immunol. 2002 Sep;104(3):221-30
pubmed: 12217331
Blood. 2012 Mar 15;119(11):2552-5
pubmed: 22130802
J Allergy Clin Immunol. 2014 Jul;134(1):226-8
pubmed: 24882743
J Clin Immunol. 2018 Jan;38(1):56-66
pubmed: 29116556
Pediatr Neurol. 2019 Sep;98:39-45
pubmed: 31277975
Clin Chem. 2010 Sep;56(9):1466-74
pubmed: 20660142
J Pediatr. 2017 Nov;190:124-129.e1
pubmed: 28711173
Neuromuscul Disord. 2019 May;29(5):343-349
pubmed: 31030938
J Transl Med. 2013 Aug 14;11:188
pubmed: 23941115
J Allergy Clin Immunol. 2005 Feb;115(2):391-8
pubmed: 15696101
N Engl J Med. 2017 Nov 2;377(18):1713-1722
pubmed: 29091557
Hum Mol Genet. 1999 Jul;8(7):1177-83
pubmed: 10369862
Immunol Rev. 2019 Jan;287(1):241-252
pubmed: 30565242
N Engl J Med. 2014 Jul 31;371(5):434-46
pubmed: 25075835
N Engl J Med. 2017 Nov 2;377(18):1723-1732
pubmed: 29091570
JAMA. 2014 Aug 20;312(7):729-38
pubmed: 25138334
Pediatr Allergy Immunol. 2016 Feb;27(1):70-7
pubmed: 26498110
Pediatrics. 2006 May;117(5 Pt 2):S308-14
pubmed: 16735257
Curr Opin Hematol. 2013 Jan;20(1):48-54
pubmed: 23108220
Scand J Immunol. 2018 Jun 26;:e12699
pubmed: 29943473
Am J Med Genet A. 2010 Jul;152A(7):1608-16
pubmed: 20578137
Am J Hum Genet. 1996 Nov;59(5):1057-65
pubmed: 8900234
J Allergy Clin Immunol. 2009 Sep;124(3):522-7
pubmed: 19482345
World J Pediatr. 2019 Jun;15(3):219-225
pubmed: 30904991
J Clin Immunol. 2017 Jan;37(1):51-60
pubmed: 27873105
Genet Med. 2013 Mar;15(3):178-86
pubmed: 22975760
Clin Chem. 2015 Feb;61(2):412-9
pubmed: 25502182