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SALSA MLPA Probemix P213 HSP mix-2

SALSA® MLPA® Probemix P213 HSP mix-2 detects copy number variations in the REEP1 and SPG7 genes.

Specifications

Contents: 42 MLPA probes, including 10 probes for REEP1 and 21 probes for SPG7.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: spastic paraplegia type 7 (SPG7) and type 31 (SPG31).

CE-marked for in vitro diagnostic (IVD) use.

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List Prices Documentation

Key related products

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Contains probes for SPG3A and SPAST.

SALSA MLPA Probemix P211 HSP region

Contains probes for SPAST, DPY30, SLC30A6, TUBGCP5, NIPA2 and NIPA1.

SALSA MLPA Probemix P306 SPG11

Contains probes for SPG11.

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Intended purpose

The SALSA MLPA Probemix P213 HSP mix-2 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplication in REEP1 and SPG7 genes, in order to confirm a potential cause for and clinical diagnosis of spastic paraplegia (SPG) type 31 and SPG type 7, respectively. This assay is for use with genomic DNA isolated from human peripheral whole blood specimens. This product can also be used for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Hereditary spastic paraplegias (HSP) are genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness of the lower limbs due to axonal degeneration in the pyramidal tract. To date, more than 80 genetic types of HSP have been defined by genetic linkage analysis and identification of HSP-related gene variants.

Spastic paraplegia type 31 (SPG31) is caused by a pathogenic variant in the receptor expression-enhancing protein 1 (REEP1) and accounts for about 5% of all autosomal dominant HSP. The most common type of REEP1 mutations explaining SPG31 are small frameshift mutations, but nonsense, missense, and microRNA target site alterations have been described (Beetz et al. 2008). 9.5% of pathogenic mutations in REEP1 are copy number variations (Goizet et al. 2011).

SPG7 is caused by pathogenic variants in SPG7 and may account for approximately 5% of all autosomal recessive HSP. Of all SPG7 cases, most are caused by SPG7 point mutations (~98%), while less than 2% can be explained by SPG7 copy number variations (Klebe et al. 2012, Pfeffer et al. 2015).

More information on HSP is available on https://www.ncbi.nlm.nih.gov/books/NBK1509/.

Regulatory status

SALSA MLPA Probemix P213 HSP mix-2 is CE-marked for in vitro diagnostic (IVD) use.

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

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P213-025R
SALSA MLPA Probemix P213 HSP mix-2 – 25 rxn
MLPA
€ 281.00
P213-050R
SALSA MLPA Probemix P213 HSP mix-2 – 50 rxn
MLPA
€ 550.00
P213-100R
SALSA MLPA Probemix P213 HSP mix-2 – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (B3) version of this product and have been shown to produce useful results.

  • Coriell HG00246: Heterozygous triplication affecting the probes for REEP1 exon 3-8.
  • Coriell HG02128: Heterozygous deletion affecting the probes for SPG7 exon 1-7. The upstream flanking probe is also affected.
  • Coriell NA21108: Heterozygous duplication affecting the probes for SPG7. The upstream flanking probe is also affected.

Resources

General resources

Learning

Publications

Selected publications using SALSA MLPA Probemix P213 HSP mix-2

  • Arnoldi A et al. (2008). A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat. 29:522-31.
  • Battini R et al. (2011). Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. Eur J Neurol. 18:150-7.
  • Goizet C et al. (2011). REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 32:1118-27.
  • López E et al. (2015). Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia. Neurogenetics. 16:97-105.
  • Pennings M et al. (2023). Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies. Eur J Hum Genet. 31:654-62.
  • Yoon G et al. (2013). Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. Neurogenetics. 14:181-8.

References

  • Beetz C et al. (2008). REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 131:1078-86.
  • Goizet C et al. (2011). REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 32:1118-27.
  • Klebe S et al. (2012). Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain. 135:2980-93.
  • Pfeffer G et al. (2015). SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 84:1174-6.
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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.