LightMix® Kit TREC SMA HBB Newborn

Cat.-No. 40-0621-44

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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.

Einfach dreifach besser: Multiplex PCR-Test aus DBS-Blut von Neugeborenen.

Zeitersparnis durch Multiplexing von TREC, SMN1 und HBB

Schnellere und einfachere Abarbeitung Ihrer Proben

Kombination mit KREC und endogener Aktin-Kontrolle möglich

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Vial
1x PSR
Cap Color
orange
Description
Parameter Specific Reagents (PSR) containing premixed and dried primers and probes <100 pg unlabeled oligonucleotides (target specific primers for each assay); <100 pg LC610 labeled Hydrolysis Probe (target specific probe); <100 pg R6G labeled Hydrolysis Probe (target specific probe); <100 pg SimpleProbe 519 labeled (target specific probes) 3 targets detected per sample

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.

Channel 530 HBB
No Amplification
No Amplification
No Amplification
No Amplification
No Amplification
No Amplification
Channel 580 SMN1
Amplification
Amplification
No Amplification
Amplification
Amplification
No Amplification
Channel 610 TREC
Amplification
No Amplification
Amplification
Amplification
Amplification
No Amplification
Channel 530 HBB MELT
One peak Tm ~66 °C
One peak Tm ~66 °C
One peak Tm ~66 °C
Two peaks Tm ~61 °C and ~66 °C
No peak ~66 °C
No peak
Result
normal
SCID
SMA
Thalassemia risk
Thalassemia
Failure/Repeat
Information
Zusätzlich benötigte Reagenzien
SAP Nummer
Beschreibung
Material for specimen preparation, Material for sample analysis (hierfür eventuell noch einen extra Reiter ergänzen und eine Tabelle einfügen)
09 802 533 001
  • Testprinzip
  • KIT-Komponente
  • Ergebnisinterpretation
  • Zusätzliche Informationen

Spezifikationen

IFU LightMix® Kit TREC SMA HBB Newborn

Newborn Flyer

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Referenzen

DBS

  1. Optimized DNA extraction from neonatal dried blood spots: application in methylome profiling. Ghantous et al., 2014

TREC

  1. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Douek et al., 2000

  2. Quantification of T-cell receptor excision circle DNA using fluorescence resonance energy transfer and the LightCycler system. Loeffler et al., 2002

  3. Development of a routine newborn screening protocol for severe combined immunodeficiency. Baker et al., 2009

  4. 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

  5. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Borte et al., 2012

  6. Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study. Barbaro et al., 2017

SMA

  1. 1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for Spinal Muscular Atrophy Type 1. Strom et al., 2013

  2. 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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