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SALSA MLPA Probemix P165 HSP mix-1

SALSA® MLPA® Probemix P165 HSP mix-1 detects copy number variations in the ATL1 and SPAST genes.

Specifications

Contents: 47 MLPA probes, including 16 probes for ATL1 and 20 probes for SPAST.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: spastic paraplegia type 3A (SPG3A) and type 4 (SPG4).

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

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List Prices Documentation

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Intended purpose

The SALSA MLPA Probemix P165 HSP mix-1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in ATL1 and SPAST genes, in order to confirm a potential cause for and clinical diagnosis of spastic paraplegia (SPG) type 3A and SPG type 4, 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 3A (SPG3A) is caused by pathogenic mutations in the ATL1 gene and accounts for approximately 10% of all autosomal dominant HSP. Currently, there are more than 60 different ATL1 mutations described for SPG3A patients, which are divided into five broad groups: 91.5% missense mutations, 4% small insertions, 2.8% small deletions, 0.7% splice site mutation, and one (0.7%) whole exon deletion (exon 4) (Sulek et al. 2013).

Mutations in the SPAST gene are responsible for both autosomal dominant HSP (40–50%) and sporadic cases (10–15%), causing spastic paraplegia type 4 (SPG4). The most common type of SPAST mutations are point mutations (75-80%), and large genomic abnormalities, such as exon deletions, account for up to 20-29% of disease-associated SPAST mutations (Beetz et al. 2006; d’Amore et al. 2018; Depienne et al. 2006; Kadnikova et al. 2019).

More information on HSP is available on https://www.ncbi.nlm.nih.gov/books/NBK1509/; https://www.ncbi.nlm.nih.gov/books/NBK1160/; https://www.ncbi.nlm.nih.gov/books/NBK45978/.

Regulatory status

SALSA MLPA Probemix P165 HSP mix-1 is CE-marked for in vitro diagnostic (IVD) use.

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

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P165-025R
SALSA MLPA Probemix P165 HSP mix-1 – 25 rxn
MLPA
€ 281.00
P165-050R
SALSA MLPA Probemix P165 HSP mix-1 – 50 rxn
MLPA
€ 550.00
P165-100R
SALSA MLPA Probemix P165 HSP mix-1 – 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 (C3) version of this product and have been shown to produce useful results.

Resources

General resources

Learning

Publications

Selected publications using SALSA MLPA Probemix P165 HSP mix-1

  • D'Amore A et al. (2018). Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. Front Neurol. 9:981.
  • Hashemi SS et al. (2022). Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears. Can J Neurol Sci. 49:651-61.
  • Kadnikova VA et al. (2019). Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Sci Rep. 9:14412.
  • Magariello A et al. (2010). Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. J Neurol Sci. 288:96-100.
  • Mészárosová AU et al. (2016). SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. J Hum Genet. 61:845-50.
  • Navas-Sánchez FJ et al. (2021). Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4. J Neurol. 268:2429-40.
  • Park H et al. (2015). Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. J Neurol Sci. 357:167-72.
  • Parodi L et al. (2018). Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain. 141:3331-42.
  • Sulek A et al. (2013). Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Neurol Sci. 34:239-42.

References

  • Beetz C et al. (2006). High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology. 67:1926-30.
  • D'Amore A et al. (2018). Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. Front Neurol. 9:981.
  • Depienne C et al. (2007). Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 44:281-4.
  • Kadnikova VA et al. (2019). Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Sci Rep. 9:14412.
  • Sulek A et al. (2013). Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Neurol Sci. 34:239-42.
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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.