The LightMix® TREC SMA HBB Newborn kit is an in-vitro diagnostic test intended to be used to screen genomic nucleic acid (DNA) extracted from dried blood spots (DBS) from newborns for (1) the absence of Tcell receptor excision circles (TREC), a sign for severe combined immunodeficiency disease (SCID), (2) homozygous deletions of survival motor neuron 1 (SMN1) exon 7, the most predominant cause for severe type 1 spinal muscular atrophy (SMA), and optional (3) for mutations in the region of codon 6 of the beta globin gene, commonly associated with thalassemia.
In the case that the national regulations do not permit genetic thalassemia testing, the melting analysis can be skipped.
Zeitersparnis durch Multiplexing von TREC, SMN1 und HBB
Kombination mit KREC und endogener Aktin-Kontrolle möglich
Schnellere und einfachere Abarbeitung Ihrer Proben
Bestellen Sie hier einfach, schnell und unkompliziert Ihr gewünschtes Kit.
Result analysis involves a general-use software which has not specifically been adapted for analysis of these assays. Software 'positive' and 'negative' result calls must be verified by the operator to avoid the reporting of false results.
• Samples that have amplification curves in the 580 and 610 channels are positive for the detection of TREC and SMN1.
• Report samples with no amplification in the 610 channel and amplification in the 580 channel as absence of TREC detected.
• Report samples with no amplification in the 580 channel and amplification in the 610 channel as deletion of SMN1 detected.
Notes: The values of the Tm may vary ±2.5 °C between different runs. Approx. 0.1% of all tested samples are reported to give very low TREC (or KREC) levels.
HBB: The targeted region of the globin gene is rich in polymorphisms. Neighbored mutations, in particular rs33930165 (70613 G>A) or CD8 (70619-70620 delAA) as well as CD9 +T 70624-70625) will cause also lower Tm peaks.
Neben dem LightMix® Kit TREC SMA HBB Newborn bieten wir Ihnen noch zahlreiche weitere Kits wie XY und XY an.
Riskieren Sie einen Blick oder bestellen Sie direkt!
Referenzen
DBS
Optimized DNA extraction from neonatal dried blood spots: application in methylome profiling. Ghantous et al., 2014
TREC
Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Douek et al., 2000
Quantification of T-cell receptor excision circle DNA using fluorescence resonance energy transfer and the LightCycler system. Loeffler et al., 2002
Development of a routine newborn screening protocol for severe combined immunodeficiency. Baker et al., 2009
Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Sottini et al., 2010
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Borte et al., 2012
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study. Barbaro et al., 2017
SMA
1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for Spinal Muscular Atrophy Type 1. Strom et al., 2013
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR. Czibere et al., 2019
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