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SALSA MC002 SMA Newborn Screen

Melt Assay SALSA® MC002 SMA Newborn Screen detects homozygous deletions of exon 7 in the SMN1 gene.

Specifications

Contents: probe and primer mix for the detection of exon 7 of SMN1 and SMN2.

Tissue: genomic DNA isolated from human peripheral whole blood or dry blood spot (DBS) cards.

Application: spinal muscular atrophy (SMA).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key 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 (Silent) Carrier

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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MRC Holland has recently obtained the In Vitro Diagnostic Regulation (IVDR; EU 2017/746) certification for this product. The CE-IVDR version will be sold from early 2025, and will be accompanied by a change in the intended purpose. The use of genomic DNA isolated from human peripheral whole blood will no longer be intended for diagnostic use. The composition of this product remains unchanged.

MRC Holland offers four different assays for SMA that fit the complete range of genetic testing needs. Compare our SMA products.

For more information about the principle of this assay, see the resources section below.

Intended purpose

The Melt Assay SALSA MC002 SMA Newborn Screen is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of homozygous deletions of exon 7 in the SMN1 gene in genomic DNA isolated from human peripheral whole blood specimens or dry blood spot (DBS) cards. MC002 SMA Newborn Screen is intended to confirm a potential cause for and clinical diagnosis of spinal muscular atrophy (SMA) and for molecular genetic screening of newborns. The MC002 assay cannot determine absolute SMN1 or SMN2 copy numbers with the exception of 0 copies.

For the full intended purpose, see the instructions for use.

Clinical background

Spinal muscular atrophy (SMA) is a severe, recessive, neuromuscular disease for which treatment options are 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.

Regulatory status

SALSA MC002 SMA Newborn Screen is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel and Thailand.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version A

Other versions

Contact us for earlier versions.

List prices

Product

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

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Resources

MC002 SMA Newborn Screen

Newborn Screening for Spinal Muscular Atrophy (SMA)

General resources

Learning

Publications

Selected publications using MC002 SMA Newborn Screen

  • Strunk A et al. (2019). Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy. Int J Neonatal Screen. 5:21.
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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), and the UK.

IL

IVD-registered in Israel.

TH

IVD-registered in Thailand