SALSA MLPA Probemix P441 SACS detects copy number variations in the SACS gene.
Contents: 28 MLPA probes, including 18 probes for SACS.
Tissue: human genomic DNA.
Application: research on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P441 SACS is a research use only (RUO) assay for the detection of deletions or duplications in the SACS gene, which is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
ARSACS is a neurodegenerative disorder, characterised by early-onset progressive cerebellar ataxia with spasticity and peripheral neuropathy. The classic form of ARSACS is often displayed in early childhood, leading to delayed walking in young toddlers, while individuals with disease onset in teenage or early-adult years are also being described more recently. ARSACS is caused by mutations in the SACS gene, which encodes the sacsin protein believed to integrate the ubiquitin-proteasome system and Hsp70 chaperone machinery and implicated in the processing of ataxin-1. Sacsin is most highly expressed in large neurons, including cerebellar Purkinje cells.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1255/.
SALSA MLPA Probemix P441 SACS is for research use only (RUO) in all 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.
We have no information about specific commercially available positive samples that can be used with this product.