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SALSA MC002 SMA Newborn Screen

SMA

Region: 5q13.2

Melt Assay | CE IL
Intended Purpose
  • In vitro diagnostic assay for neonatal screening of spinal muscular atrophy (SMA)1.
  • Melt curve assay for the detection of the SMN1 gene-specific exon 7 DNA sequence in human DNA extracted from blood, including dried blood spot (DBS) cards.
  • This assay allows for the detection of 95-98% of SMA patients in most populations2.
  • Positive results should be confirmed with SALSA MLPA probemix P021 SMA using either DNA purified from peripheral blood or a crude extract from washed DBS cards, prepared as described in this protocol.
  • The MC002 assay cannot determine absolute SMN1 or SMN2 copy numbers with the exception of 0 copies.

1 In Vitro Diagnostic use (IVD): only in the countries specified on the title page of the instructions for use. In all other countries, this product is for Research Use Only (RUO).
2 In people of African descent, the percentage of SMA patients with a homozygous exon 7 deletion may be lower (Labrum et al. 2007). This assay does not detect other causes of SMA such as pathogenic point mutations.

Disease
Spinal muscular atrophy (SMA) is a severe, recessive, neuromuscular disease for which treatment options have recently become available. SMA is caused by a complete absence of functional copies of the SMN1 gene. In most populations, homozygous absence of the exon 7 DNA sequence of the SMN1 gene is observed in 95-98% of SMA patients. In most remaining cases, point mutations or partial deletions in the SMN1 gene are the cause of disease. For more information see Appendix 1: Background Information in the instructions for use.

Assay
In the SALSA MC002 SMA Newborn Screen PCR, amplification of exon 7 of the SMN1 gene and the closely related SMN2 gene is performed, followed by fluorescent probe binding to the amplicons and generation of a melt curve (Figure 1, Strunk et al. 2019). Fluorescence is only measured during melt curve generation.

Absence of the SMN1-specific melt peak at 63°C is indicative of the absence of the SMN1 exon 7 DNA sequence. The presence of an SMN1 (63°C) and/or SMN2 (56°C) specific melt peak and an absent or low signal for the Q (quantity)-fragment specific melt peak (49°C) indicates successful assay performance and the use of sufficient sample DNA. The assay uses a crude DNA extract prepared from a 1.5 mm or 3.2 mm punch of a DBS card or purified DNA from peripheral blood. More information on the assay can be found in Appendix 2: SALSA MC002 SMA Newborn Screen in the instructions for use.

MC002 Figure 1.
Figure 1. Summary of assay steps. (A) The exon 7 regions of SMN1 and SMN2 are amplified with a single set of primers, with one primer in excess. (B) A fluorescently-labelled probe binds to the amplicons. (C) The resulting melt curve indicates SMN1 and SMN2 sequence presence and DNA quantity.

Download our demosheet for more information.

Order Items

Probemix

Item no.
Description
Technology
Price
MC002-100R
SALSA MC002 SMA Newborn Screen – 100 rxn
€ 450.00
MC002-1000R
SALSA MC002 SMA Newborn Screen – 1000 rxn
€ 4000.00
MC002-2000R
SALSA MC002 SMA Newborn Screen – 2000 rxn
*
* Please enquire about pricing of MC002 in larger volumes

Related Products

SALSA MLPA Probemix P021 SMA

Patient testing for spinal muscular atrophy. Quantification of exons 7 and 8 of SMN1 and SMN2. Quantification of the combined SMN1+SMN2 copy number of each other exon.

SALSA MLPA Probemix P060 SMA Carrier

Carrier testing for spinal muscular atrophy. Quantification of exons 7 and 8 of SMN1.

SALSA MLPA Probemix P460 SMA

Carrier testing for spinal muscular atrophy. Quantification of exons 7 and 8 of SMN1 with increased chance of detection of silent SMA carriers by inclusion of probes for a specific SNP haplotype.

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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA).

IL

IVD-registered in Israel.