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SALSA® MLPA® Probemix P165 HSP mix-1 detects copy number variations in the ATL1 and SPAST genes.
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.
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.
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/.
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.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.